Endocrinology

A 45-year-old man presents to his GP with headaches. His BP is 166/4 mmHg.

!o"tine in#estigations re#eal sodi"m 14$ mmol/l% potassi"m $.6 mmol/l% chloride 1&1
mmol/l and normal "rea and creatinine le#els. Plasma renin is "ndetecta'le and
aldosterone le#els are raised. (hat is the most li)ely ca"se *or his hypertension+
A ,"shing-s syndrome
B Primary hyperaldosteronism ,orrect answer
, Phaeochromocytoma
. !enal artery stenosis
E Acromegaly
Primary aldosteronism% or ,onn-s syndrome% is a condition where there is a 'enign
adrenal adenoma that is secreting aldosterone. /he renin le#el is low% and
hypo)alaemia is one o* the common *indings as well as hypertension. ,"shing-s
syndrome% acromegaly and phaeochromocytoma are all associated with secondary
hypertension% '"t not with low renin and ele#ated aldosterone le#els. !enal artery
stenosis has high renin le#els as well as high aldosterone le#els and so ca"ses
secondary hyperaldosteronism. /reatment o* ,onn-s syndrome is with s"rgical
e0cision o* the adenoma or with potassi"m-sparing di"retics.
A 14-year-old man presents to the dia'etes clinic with a history o* thirst% poly"ria and
a recent 1.$ )g 23 l'4 weight loss. His "rine contains a small amo"nt o* )etones.
(hich o* the *ollowing wo"ld s"ggest he is most li)ely to ha#e type-$ rather than
type-1 dia'etes+
A A B56 o* $1
B High circ"lating ins"lin le#el ,orrect answer
, H7A type .!-1
. Positi#e islet-cell anti'odies
E Plasma 'icar'onate le#el o* 8 mmol/l 9o"r answer
/ype-1 dia'etes mellit"s is an a"toimm"ne disorder characterised 'y the presence% in
many patients% o* a"toanti'odies to the islet cell 26,A4% ins"lin 26AA4 or gl"tamic acid
dehydrogenase 2GA.4. 6t is associated with H7A .!-1 or .!-4. Patients with type-$
dia'etes more commonly ha#e a high B56 : $5% as this *orm o* dia'etes is associated
with ins"lin resistance and high ins"lin le#els rather than low ins"lin le#els. ;inally%
patients with type-$ dia'etes mellit"s can ha#e < or << )etones in the "rine% '"t don-t
"s"ally ha#e se#ere acidosis represented 'y a 'icar'onate le#el o* 8 mmol/l. /his is
more common in type-1 dia'etes% with dia'etic )etoacidosis still a common and
sometimes *atal complication.
A 45-year-old woman who wor)s in a pharmacy presents with episodes o* tiredness
and lethargy. Her 'lood press"re is 115/35 mmHg. Her 'loods re#eal hypo)alaemia
and a raised ser"m 'icar'onate le#el. =rine collection re#eals hypercalci"ria.
>therwise the *indings are "nremar)a'le. (hat is the li)ely diagnosis+
A Bartter-s syndrome
B Gitelman-s syndrome 9o"r answer
, ;r"semide a'"se ,orrect answer
. ,onn-s syndrome
E 7iddle-s syndrome 9o"r answer
/his pict"re co"ld *it Bartter-s syndrome% altho"gh Bartter-s syndrome is rare 21 per
million4% has an a"tosomal-recessi#e pattern o* inheritance and commonly presents
'elow the age o* 5 years. ;eat"res o* Bartter-s syndrome incl"de #ol"me depletion%
sei?"res% tetany and m"scle wea)ness. /his woman-s occ"pation is the cl"e% which
"n*ort"nately ma)es *r"semide a'"se #ery m"ch more li)ely.
A 18-year-old psychiatric patient who is 'eing treated *or depression is admitted with
increased con*"sion. His sodi"m is 1$$ mmol/l% with a plasma osmolality o* $15
m>smol/)g. /here is no e#idence on e0amination o* cardiac% renal or hepatic *ail"re.
!andom plasma cortisol and thyroid *"nction are normal. (hich o* the *ollowing
statements 'est *its this condition+
A !ed"ced renal sodi"m e0cretion is li)ely 9o"r answer
B =rine osmolality is li)ely to 'e less than 1&& m>sm/)g
, 6ncreased renal sodi"m e0cretion is li)ely
,orrect
answer
.
Psychiatric dr"gs are #ery "nli)ely to 'e related to the "nderlying
condition
E Hypothyroidism is a possi'le contri'"tor
/his is the syndrome o* inappropriate antidi"retic hormone 2@6A.H4 secretion.
,riteria *or diagnosis are hyponatraemia with an osmolality o* less than $3&
m>smol/)g. 6nappropriately raised "rine osmolality 2: 1&& m>smol/l4. E0cessi#e
renal sodi"m loss o* : $& mmol/l% and normal renal% adrenal and thyroid *"nction.
Psychiatric dr"gs% partic"larly monoamine o0idase inhi'itors and phenothia?ines may
'e possi'le ca"ses. >ther possi'le ca"ses incl"de t"mo"rs% s"ch as small-cell l"ng
cancer% other chest pathology% intracere'ral haemorrhage or tra"ma% dr"gs s"ch as
car'ama?epine or chlorpropamide and meta'olic ca"ses s"ch as hypothyroidism.
/reatment is with *l"id restriction or tetracycline-li)e compo"nds that promote water
e0cretion.
A 4$-year-old man is re*erred to the hypertension clinic *or ad#ice. He is c"rrently
ta)ing atenolol% 'endro*l"a?ide and ramipril and his 'lood press"re is c"rrently
165/1&5 mmHg. His potassi"m is 1.& mmol/l% with a ser"m 'icar'onate concentration
o* $8 mmol/l. (hat is the 'est ne0t management step+
A 5eas"re the aldosteroneArenin ratio 9o"r answer
B
(ash o"t as many o* his antihypertensi#e agents as is possi'le *or a
period o* $ wee)s% then re#iew
,orrect
answer
, 5eas"re his $4-h 'lood press"re
. Arrange $4-h "rinary *ree-cortisol collection
E Add in a *"rther agent and re#iew in 1$ months
/he s"spicion here with hypo)alaemia and meta'olic al)alosis% and resistant
hypertension on three agents% is that he has primary hyperaldosteronism. A,E
inhi'itors and angiotensin 66-receptor 'loc)ers% di"retics% calci"m-channel 'loc)ers% B-
'loc)ers all ideally reC"ire a washo"t period o* $ wee)s to ma)e the aldosteroneArenin
ratio assay meaning*"l. @pironolactone reC"ires a washo"t period o* 6 wee)s. A high
aldosteroneArenin ratio is s"ggesti#e o* primary hyperaldosteronism. /he 'lood
sample sho"ld 'e ta)en in the morning% standing% and with a normalised potassi"m
concentration 2"sing s"pplementation4 i* possi'le. =rinary potassi"m e0cretion : 1&
mmol/$4 h may 'e another "se*"l adD"nct in ma)ing the diagnosis. @"rgery is the
treatment o* choice *or ,onn-s adenoma and leads to resol"tion o* hypertension in
aro"nd 3&E o* patients% mitotane may 'e "se*"l *or controlling symptoms o* adrenal
carcinoma% spironolactone is the medical treatment o* choice *or adrenal hyperplasia.
A 1$-year-old woman presents with collapse. @he wor)s in an o**ice en#ironment and
it has 'een a partic"larly hot day. >n e0amination in cas"alty she loo)s a little
dehydrated% her 'loods re#eal low ser"m potassi"m and magnesi"m le#els and an
ele#ated ser"m 'icar'onate. (hat is the most li)ely diagnosis+
A Bartter-s syndrome
B Gitelman-s syndrome ,orrect answer
, Gordon-s syndrome
. ,onn-s syndrome 9o"r answer
E 7iddle-s syndrome
Gitelman-s syndrome is d"e to a m"tation in the thia?ide-sensiti#e FaG,l transporter
in the distal con#ol"ted t"'"le. 6t is associated with hypo)alaemia% hypomagnesaemia
and raised ser"m 'icar'onate le#els. /here is also hypocalci"ria. /reatment is with
potassi"m and magnesi"m replacement with or witho"t potassi"m-sparing di"retics.
Bartter-s syndrome presents earlier with hypo)alaemic al)alosis and hypercalci"ria%
d"e to a m"tation in the '"metanide-sensiti#e Fa
<
GH
<
-$,l
-
transporter. /reatment is
with potassi"m replacement% non-steroidal anti-in*lammatories and sometimes A,E
inhi'itors. 7iddle-s syndrome is d"e to a m"tation in the distal nephron sodi"m
channel% and is associated with hypo)alaemic al)alosis and low renin and aldosterone
le#els% '"t hypertension still occ"rs. Essentially% Gordon-s syndrome is the opposite o*
Bartter-s syndrome% presenting with hyper)alaemia. ,onn-s syndrome is associated
with hypertension and is d"e to aldosterone e0cess.
A 15-year-old H6I-positi#e man% e#al"ated *or weight loss and wea)ness has 'een
*o"nd to ha#e disseminated t"'erc"losis. >n e0amination% he is hypotensi#e and has
hyperpigmentation o* the m"cosa% el'ows and s)in creases. ;"rther in#estigations
con*irm a diagnosis o* Addison-s disease. (hich o* the *ollowing is li)ely in this
condition+
A 6ncreased ser"m Fa
B 6ncreased ser"m ,l
, 6ncreased ser"m H,>
1
. 6ncreased ser"m H ,orrect answer
E .ecreased ser"m ,a
6n adrenal destr"ction% ser"m Fa% ,l and H,>
1
le#els are red"ced% and ser"m
potassi"m is ele#ated. /he hyponatraemia is d"e to 'oth loss o* sodi"m in the "rine
2d"e to aldosterone de*iciency4 and to mo#ement into the intracell"lar compartment.
Hyper)alaemia is d"e to a com'ination o* aldosterone de*iciency% impaired
glomer"lar *iltration 2d"e to hypotension4 and acidosis. 5ild to moderate
hypercalcaemia occ"rs in 1&G$&E patients% the ca"se o* which is "ncertain.
A $8-year-old man presents to cas"alty with a s"dden loss o* #ision in his right eye.
His only past history o* note is a pre#io"s cere'ellar haemorrhage. >n e0amination he
has e#idence o* 'ilateral retinal angiomas% and a partial retinal detachment in his right
eye. (hat is the most li)ely diagnosis+
A @imple tra"matic retinal detachment
B ,lotting disorder
, Bleeding d"e to hypertension
. #on HippelG7inda" disease ,orrect answer
E 5c,"neGAl'right syndrome
Ion HippelG7inda" disease is characterised 'y ,F@ and retinal haemangio'lastomas
2presenting *eat"re in 4&E o* patients4% renal cysts and carcinomas 2occ"rring later4%
phaeochromocytoma 2$&E o* a**ected *amilies% 'ilateral in 4&E o* patients4 and
pancreatic t"mo"rs 25&E non-*"nctioning4. /he pre#alence is 1 in 1%&&& with a mean
age at presentation o* $3 years. !enal cysts occ"r later% with 3&E o* patients ha#ing
them 'y age 6& years. 6deally% genetic testing in a**ected *amilies sho"ld ta)e place
aro"nd the age o* 5 years. A**ected indi#id"als then reC"ire yearly "rinalysis%
catecholamine screening% *l"orescein angiography% with 1-yearly 'rain 5!6 scanning.
An 81-year-old woman is re*erred to the thyroid clinic with increasing si?e o* a pre-
e0isting goitre. @he has had long-standing hypothyroidism and has 'een on a dose o*
thyro0ine o* 1&& mg daily *or many years. (hich o* the *ollowing primary thyroid
cancers is she most li)ely to ha#e+
A Anaplastic thyroid cancer
B ;ollic"lar thyroid cancer
, 5ed"llary thyroid cancer
. Papillary thyroid cancer 9o"r answer
E /hyroid lymphoma ,orrect answer
Primary thyroid lymphoma is strongly associated with lymphocytic thyroiditis
2Hashimoto-s disease4% which is present in 8&E o* cases. 6t is predominantly a disease
o* elderly women. =p to 1&E o* patients ha#e a history o* goitre and may 'e ta)ing
thyro0ine. Anaplastic thyroid cancer is commonly *o"nd in elderly patients and
"s"ally presents with a thyroid mass. 6t can occ"r in a pre-e0isting goitre. 6t is "s"ally
rapidly progressi#e and has the worst prognosis o* the thyroid cancers. 5ed"llary
thyroid cancer arises *rom within the J,- cells o* the thyroid% cells which prod"ce
calcitonin. 6t is commonly associated with m"ltiple endocrine neoplasia type-$
25EF$4 along with primary hyperparathyroidism and phaeochromocytoma. ;ollic"lar
thyroid cancer is typically *o"nd in middle-aged to older indi#id"als and "s"ally
presents as a solitary asymptomatic thyroid nod"le. E#ent"ally $&E o* patients will
de#elop distant metastases. Papillary thyroid cancer is most commonly *o"nd in the
1&G5& age gro"p '"t can occ"r at any age. 6t most commonly metastasises to the local
lymph nodes within the nec). Prognosis is 'etter than the other thyroid cancers.
(hich o* the *ollowing is a *eat"re o* 5EF-1+
A 5ar*anoid *eat"res
B Phaeochromocytoma
, 5ed"llary carcinoma o* the thyroid
. Parathyroid hyperplasia ,orrect answer
E 5"cosal ne"romas
5EF-1 2m"ltiple endocrine neoplasia type-1K (erner-s syndrome4 in#ol#es the three
P-sA parathyroid% pit"itary% pancreas.
Parathyroid Hyperparathyroidism is the most common mani*estation in 5EF-1
Pit"itary Prolactinomas are most common in the pit"itary gland
Pancreas
@econd most common in#ol#ement in 5EF-1. Pancreatic t"mo"rs are
associated withA
2a4 pancreatic polypeptide 235G85E4
2'4 gastrin 2LollingerGEllison syndrome4 G rec"rrent peptic "lcers
2c4 ins"linoma G hypoglycaemia
2d4 gl"cagonoma G hyperglycaemia and s)in rash 2necrolytic migratory
erythema4
2e4 I6Poma 2#asoacti#e intestinal polypeptide-secreting t"mo"r4 G IernerG
5orrison syndrome or watery diarrhoea hypo)alaemia achlorhydria
2(.HA syndrome4
5EF-$ "s"ally in#ol#es the thyroid and parathyroid glands and phaeochromocytoma.
/he mode o* inheritance in 5EF-1 is a"tosomal-dominant. 5EF-$A is characterised
'y med"llary thyroid carcinoma% parathyroid hyperplasia/adenoma and
phaeochromocytoma. 6n addition% 5EF-$B 2@ipple-s syndrome4 has m"cosal and
gastrointestinal 2G64 ne"romas and mar*anoid *eat"res.
A 44-year-old patient with hypomania is re*erred *or opinion. @he is noted to ha#e a
sodi"m concentration o* 14$ mmol/l% with a "rea o* 1$ mmol/l and a creatinine o* 14&
mmol/l. =rine osmolality is $8& m>smol/l. ;asting plasma gl"cose is normal. /he
n"rses ha#e monitored her "rine o"tp"t and *o"nd it to 'e 4.4 litres in $4 h. (hich o*
the *ollowing statements 'est *its with her condition+
A Psychiatric dr"gs are "nli)ely to ha#e played a part in her condition
B
@er"m osmolality rising to : 1&5 m>smol/l 4 h a*ter desmopressin in
the water depri#ation test is a positi#e res"lt *or cranial dia'etes
insipid"s% it is "nli)ely to rise in this case
,orrect
answer
, Fephrogenic dia'etes insipid"s has a dominant pattern o* inheritance
. .esmopressin in addition to her "s"al dr"gs is li)ely to 'e e**ecti#e
9o"r
answer
E 6ndometacin is o* no #al"e
/his patient has dia'etes insipid"s% pro'a'ly renal in origin related to the "se o*
lithi"m as treatment *or manic depression. .ecompensated dia'etes insipid"s has
*eat"res o* dehydration 2as in this case4% with an inappropriately low "rine osmolality.
>'#io"sly dia'etes mellit"s needs e0cl"ding as a ca"se o* poly"ria 'e*ore a diagnosis
o* dia'etes insipid"s can 'e made. Psychogenic polydipsia is r"led o"t 'y the water
depri#ation test% with "rine osmolality rising appropriately in response to the lac) o*
oral inta)e. /he "rine remains dil"te in cases o* nephrogenic dia'etes insipid"s%
despite a rising plasma osmolality and "rine *ailing to concentrate a*ter desmopressin.
.esmopressin is "nli)ely to 'e e**ecti#e in this case% indometacin may 'e e**ecti#e.
Howe#er% i* possi'le% the lithi"m sho"ld 'e withdrawn in cons"ltation with a
psychiatrist% and another dr"g s"ch as lamotrigine s"'stit"ted. Fephrogenic dia'etes
insipid"s has an a"tosomal or M-lin)ed recessi#e pattern o* inheritance% whereas
cranial dia'etes insipid"s is inherited as an a"tosomal-dominant.
A 13-year-old woman presents to ANE a*ter chasing thie#es who were stealing her
car. Her 'lood press"re is noted to 'e 185/11& mmHg on admission. @he admits to
episodic headaches and *eeling stressed and an0io"s. @he is o* normal appearance% her
ser"m calci"m on admission is noted to 'e $.5 mmol/l with normal renal *"nction%
a'dominal "ltraso"nd re#eals a possi'le adrenal mass. (hat is the most li)ely
diagnosis+
A Phaeochromocytoma 9o"r answer
B ,arcinoid syndrome
, 5EF-1
. 5EF-$a ,orrect answer
E 5EF-$'
5EF-$ 2m"ltiple endocrine neoplasia G type $4 is associated with med"llary thyroid
carcinoma 2almost always4% parathyroid chie*-cell hyperplasia 21&G$5E4 and
phaeochromocytoma 2$&G5&E4. 5EF-$' is also associated with a mar*anoid
appearance% whereas 5EF-$a is not. /he ca"se is an a"tosomal-dominant inherited
genetic m"tation on the long arm o* chromosome 1&. ,orrect management o* this
patient incl"des appropriate a- and B-'loc)ade prior to s"rgical remo#al o* the
phaeochromocytoma% screening *or med"llary thyroid carcinoma with the i#
pentagastrin test and calcitonin assay% then li)ely thyroidectomy% and pro'a'le
parathyroidectomy in the hands o* an e0perienced s"rgeon. /he prognosis o* 5EF-$
is #aria'le% '"t% o#erall% the 1&-year s"r#i#al rate is aro"nd 65E.
A $6-year-old man is re*erred *or gastroscopy 'eca"se o* se#eral months o* dyspepsia.
He has ro"tine 'loods chec)ed and is *o"nd to ha#e a ser"m calci"m le#el o* 1.$
mmol/l with a #eno"s 'icar'onate le#el o* 11 mmol/l. !enal and li#er *"nction are
'oth normal. ,hest M-ray is normal. (hat is the most li)ely ca"se o* his
hypercalcaemia+
A 5yeloma
B 5etastatic malignancy
, 5il)Gal)ali syndrome ,orrect answer
. Primary hyperparathyroidism 9o"r answer
E @arcoidosis
All the a'o#e diagnoses are ca"ses o* hypercalcaemia. @ymptoms o* hypercalcaemia
are commonly thirst% poly"ria% dyspepsia% malaise% 'one pain and constipation.
5yeloma and metastatic malignancy ca"se hypercalcaemia either 'y direct lytic
lesions o* 'one or 'y the prod"ction o* P/HrP 2parathyroid hormone-related protein4.
5yeloma wo"ld 'e e0tremely rare in this age gro"p. /here is nothing in the history to
s"ggest 'one pain or a diagnosis o* metastatic malignancy. Primary
hyperparathyroidism is most commonly *o"nd 'y chance in elderly women. 6t can 'e
part o* the m"ltiple endocrine neoplasia syndromes and there*ore can 'e seen in
yo"nger people. /he normal chest M-ray s"ggests that sarcoidosis is not the diagnosis
in this case. /he age o* the patient% the dyspeptic symptoms and the raised 'icar'onate
le#el s"ggest the most li)ely diagnosis is the mil)Gal)ali syndrome ca"sed 'y the
ingestion o* antacids.
A 18-year-old woman presents to the clinic with di**ic"lt to treat hypertension. @he is
on two agents and c"rrently has a BP o* 155/5 mmHg. @he has noted that her *ace
has 'ecome more ro"nded o#er the years and she is ha#ing increasing tro"'le with
'oth acne and hirs"tism. ;asting 'lood gl"cose testing has re#ealed impaired gl"cose
tolerance. /here has also 'een increasing tro"'le with a'dominal o'esity and she has
noticed some p"rple stretchmar)s appearing aro"nd her a'domen. (hat is the most
li)ely diagnosis+
A Phaeochromocytoma
B 5"ltiple endocrine neoplasia
, Essential hypertension
. @imple o'esity
E ,"shing-s syndrome ,orrect answer
,"shing-s syndrome is associated with a ro"nd% plethoric% *acial appearance and
weight gain G in partic"lar tr"ncal o'esity% '"**alo h"mp and s"pracla#ic"lar *at pads%
s)in *ragility% pro0imal m"scle wea)ness% mood dist"r'ance% menstr"al dist"r'ance
and red"ced li'ido. Hypertension is present in more than 5&E o* patients% impaired
gl"cose tolerance in 1&E. >steopenia and osteoporosis% and premat"re #asc"lar
disease are an ine#ita'le conseC"ence in "ntreated ,"shing-s. /he ann"al incidence is
appro0imately $ per million and the disease is commoner in women. /he disease
res"lts *rom hypercortisolaemia and the ca"se in 68E o* cases is a pit"itary adenoma
prod"cing A,/H. Ectopic A,/H prod"ction is the ca"se in 1$E% adrenal adenoma in
1&E and adrenal carcinoma in 8E. .iagnosis is made on the res"lts o* the $4-h
"rinary *ree-cortisol assay. .i**erentiation as to the ca"se is carried o"t with the
de0amethasone-s"ppression test and selecti#e #eno"s sampling in cases when a
discrete t"mo"r cannot 'e identi*ied on contrast-,/ scanning.
A $4-year-old woman presents with 11 months o* amenorrhoea. ;or the past *ew
months she has 'een e0periencing hot *l"shes% night sweats% mood changes and pain
on interco"rse. ;@H has 'een : 4& m6=/l on two separate occasions% and her ser"m
estradiol le#el is low. /@H is normal. ;asting 'lood gl"cose is normal. Pregnancy test
is negati#e. (hat is the most li)ely diagnosis+
A Premat"re o#arian *ail"re ,orrect answer
B Polycystic o#arian syndrome 2P,>@4
, Androgen-secreting adrenal t"mo"r
. Pit"itary *ail"re
E /hyroto0icosis 9o"r answer
/he 'lood pict"re o* ele#ated ;@H% low estradiol and prolonged amenorrhoea *its the
pict"re. /he normal /@H r"les o"t thyroto0icosis% and the raised ;@H ma)es P,>@
"nli)ely and this does not *it the pict"re o* an androgen-secreting adrenal t"mo"r.
A"toimm"ne disease is responsi'le *or $&E o* cases o* premat"re o#arian *ail"re% and
is pre#alent in 1&E o* women with Addison-s disease and $5E o* women with
a"toimm"ne thyroid disease. @pontaneo"s reco#ery o* *ertility is "nli)ely% and p"t at
only 5E.
A 55-year-old woman presents with her h"s'and to the endocrine clinic. @he has
distressing symptoms o* sweating% and her h"s'and noticed increased prominence o*
her Daw when he was archi#ing photos *rom recent years. 7ast year she was diagnosed
with type-$ dia'etes. >ther past history o* note is that she has recently 'een operated
on *or carpal t"nnel syndrome. (hich o* the *ollowing most li)ely to *it with her
condition+
A !andom growth-hormone le#el is li)ely to 'e O 1 m=/l
B 6G;-1 le#els are li)ely to 'e normal
,
Growth-hormone le#els are li)ely to remain a'o#e $ m=/l a*ter a
35-g gl"cose load
,orrect
answer
. 1-$5->H #itamin . le#el is in#aria'ly normal
E Hypertension coe0ists in $&E o* patients with this condition 9o"r answer
/he diagnosis here is acromegaly. A random growth-hormone le#el o* O 1 m=/l
e0cl"des the diagnosis% growth-hormone le#els "s"ally remain a'o#e $ m=/l a*ter an
oral gl"cose tolerance test. /here are increased le#els o* 1%$5->H #itamin . in some
patients. 6G;-1 is in#aria'ly ele#ated in patients with acromegaly. @weating is present
in more than 8&E o* cases% hypertension in 4&E% impaired gl"cose tolerance in 4&E
and *ran) type-$ dia'etes in $&E. ,oarse *acial *eat"res incl"ding prognathism are
o*ten noticed 'y patients on comparing old photographs% enlargement o* the hands
and *eet and so*t tiss"e swelling are also common *eat"res. Growth hormone-secreting
pit"itary t"mo"rs are "s"ally identi*ied on 5!6 scanning and trans-sphenoidal
resection is the treatment o* choice.
A $4-year-old adopted man presents with transient le*t-sided wea)ness o* his arm%
which resol#es a*ter a *ew ho"rs. His only other history o* note is a red"ced li'ido and
ina'ility to maintain erections. >n e0amination he appears to ha#e a spotty s)in
pigmentation. 9o" notice a heart m"rm"r% and there is s"ggestion o* a le*t atrial mass
on echo. His prolactin is ele#ated at $&&& mol/l. (hat is the most li)ely diagnosis+
A 7e*t atrial my0oma 9o"r answer
B ,arney comple0 ,orrect answer
, Prolactinoma
. Protein , de*iciency
E @omatisation disorder
/his man has spotty s)in pigmentation% pro'a'le prolactinoma and a pro'a'le le*t
atrial my0oma. ,arney comple0 is diagnosa'le with two *eat"res o"t o* spotty s)in
pigmentation% my0oma% endocrine t"mo"rs 2commonest 'eing primary pigmented
nod"lar adrenocortical disease4% '"t it is also associated with @ertoli-cell t"mo"rs%
growth hormone- or prolactin-prod"cing pit"itary adenomas% thyroid adenomas and
o#arian cysts4 and psammomato"s melanotic schwannoma 2P5@4. 6t is also
diagnosa'le on the presence o* one *eat"re and an a**ected *irst-degree relati#e. 6t is
an a"tosomal-dominant condition ca"sed 'y an inacti#ating m"tation o* protein )inase
A on chromosome 13.
A 1$-year-old woman presents with amenorrhoea *or 6 months. A pregnancy test is
negati#e. >#er the past *ew months she has occasionally 'een lea)ing mil)% and
presents now as this has occ"rred more and more d"ring stim"lation and interco"rse
and she is 'ecoming distressed 'y it. /hyroid *"nction testing is normal. @he is on no
medication. Her ser"m prolactin le#el is $4&& m=/l and a ,/ scan o* the pit"itary is
"nremar)a'le. (hich o* the *ollowing 'est *its her condition+
A @he is li)ely to ha#e a macroprolactinoma
B @he sho"ld 'e o'ser#ed *or 1$ months
, ,a'ergoline is e**ecti#e therapy ,orrect answer
. @"rgery is the 'est option here
E A #is"al *ield de*ect is li)ely
@he most li)ely has a microprolactinoma% which wo"ld appear as a hypodense area on
5!6 scanning. @er"m prolactin is o*ten in the range 15&& m=/l to 1&&& m=/l in
patients with microadenomasK le#els are "s"ally a'o#e 1&&& m=/l in those with
macroadenomas. Altho"gh s"rgery in conD"nction with dopamine-agonist therapy is
the treatment o* choice *or patients with macroadenomas% microadenomas o*ten
respond well to ca'ergoline 281E normalisation o* prolactin4. A #is"al *ield de*ect is
"nli)ely. >'ser#ation in these patients is not "s"ally pre*era'le to normalisation o*
prolactin le#els with dopamine agonists% i* this o'ser#ational approach is ta)en then
adeC"ate se0-hormone replacement sho"ld 'e "nderta)en. >* co"rse% normalisation o*
prolactin may restore *ertility% and the patient sho"ld 'e warned o* this possi'ility.
A 56-year-old li*elong smo)er presents to his GP with a history o* co"gh%
'reathlessness and weight loss. A chest M-ray is a'normal with a mass at the right
hil"m. (hich o* the *ollowing res"lts is most li)ely to s"ggest the t"mo"r is a small-
cell l"ng t"mo"r+
A @er"m calci"m o* 1.1 mmol/l
B @er"m sodi"m o* 1$1 mmol/l ,orrect answer
, @er"m potassi"m o* 5.5 mmol/l
. Plasma osmolality o* 115 m>sm/)g
E =rine osmolality o* 145 m>sm/)g
@mall-cell l"ng t"mo"rs can secrete a n"m'er o* hormones incl"ding A.H
2#asopressin4 and A,/H. E0cess A.H ca"ses @6A.H 2syndrome o* inappropriate
A.H4 with hyponatraemia and low plasma osmolality 2normal $85G1&5 m>sm/)g4
and concentrated "rine 2: 5&& m>sm/)g4. E0cess A,/H wo"ld ca"se a hypo)alaemic
al)alosis and not hyper)alaemia. Hypercalcaemia occ"rs in sC"amo"s-cell l"ng
t"mo"rs 'eca"se o* ectopic parathyroid hormone 2P/H4 secretion.
A 13-year-old yo"ng woman with poorly controlled dia'etes mellit"s presents with a
temperat"re% dehydration and altered conscio"sness. Her initial 'iochemistry shows
sodi"m 11& mmol/l% potassi"m 4.5 mmol/l% 'icar'onate 6 mmol/l% "rea 11.$ mmol/l%
creatinine 115 nmol/l and hydrogen ion 8&. (hat is the most important immediate
treatment+
A 6ntra#eno"s anti'iotics
B 6ntra#eno"s 'icar'onate
, 6ntra#eno"s *l"ids ,orrect answer
. 6ntra#eno"s ins"lin
E 6ntra#eno"s potassi"m
/he patient has dia'etic )etoacidosis% a condition still associated with mortality in
patients with type-1 dia'etes mellit"s. /here is a total 'ody de*icit o* *l"id and
electrolytes. /he most important initial treatment is intra#eno"s saline as the
hypo#olaemia is the *actor most li)ely to ca"se the patient to die. 6ntra#eno"s ins"lin
is reC"ired at an early stageK and% altho"gh it is normal% the potassi"m le#el will
rapidly *all with *l"id and ins"lin treatment and the patient will reC"ire potassi"m
replacement. 6ntra#eno"s 'icar'onate sho"ld not 'e "sed immediately as it can ca"se
massi#e *l"id shi*ts and precipitate cere'ral oedema. 6t can 'e "sed i* hydrogen ion is
greater than 1&& and the patient is not responding to initial meas"res% in which case
small #ol"mes o* a 1.$6E 'icar'onate sol"tion sho"ld 'e "sed.
9o" are called to see a 16-year-old woman on the s"rgical ward who is $ days- post-
thyroidectomy. @he is complaining o* tingling aro"nd her mo"th and in her hands and
has de#eloped spasm o* her hands. (hat immediate treatment can yo" gi#e that is
most li)ely to resol#e her symptoms+
A As) her to 'reathe into a paper 'ag
B 6ntra#eno"s calci"m ,orrect answer
, 6ntra#eno"s dia?epam
. 6ntra#eno"s gl"cose
E 6ntra#eno"s potassi"m
Postoperati#e complications o* thyroidectomy incl"de rec"rrent laryngeal damage%
haemorrhage and inad#ertent remo#al o* the parathyroid glands. /he symptoms
descri'ed are typical o* hypocalcaemia% altho"gh they can 'e seen in patients who are
hyper#entilating. /he treatment o* choice to relie#e the ac"te symptoms is 1& ml o*
1&E calci"m gl"conate. Hypocalcaemia can 'e transient a*ter thyroid s"rgery. 6* it is
permanent then the patient needs long-term therapy with al*acalcidol to maintain her
calci"m le#els.
A 6$-year-old man presents with 'ony pain that has 'een present *or some months%
partic"larly a**ecting his le*t *em"r% pel#is and lower 'ac). Blood testing re#eals a
normal ser"m calci"m le#el% '"t a raised al)aline phosphatase. M-rays o* the *em"r
and pel#is re#eal mi0ed lytic and sclerotic change% with accent"ated tra'ec"lar
mar)ings. ,hest M-ray is normal. (hat is the li)ely diagnosis+
A @econdary carcinoma
B 5"ltiple myeloma
, Hyperparathyroidism
. Hypoparathyroidism
E Paget-s disease ,orrect answer
Paget-s disease is tho"ght to 'e present in $E o* the pop"lation a'o#e 55 years o* age%
with &E 'eing asymptomatic. 6t is more common in ,a"casian pop"lations and rarer
in pop"lations o* A*rican descent. /here are said to 'e three phases associated with
the time co"rse o* radiological changes seen in Paget-s disease. Early disease is said
to 'e primarily lytic% then there are mi0ed lytic and sclerotic changes% progressing
later to primarily sclerotic change with increasing 'ony thic)ening. Goals o* treatment
are to normalise 'one t"rno#er% maintain the al)aline phosphatase le#el within the
normal range% minimise symptoms and pre#ent long-term complications. /he
mainstay o* treatment *or this has 'een "se o* the 'isphosphonates. /hese are now
o*ten gi#en as intermittent i# co"rses a *ew wee)s apart. 7ong-term complications
incl"de dea*ness 2in "p to 5&E o* patients with s)"ll-'ase Paget-s disease4% and #ary
rarely osteogenic sarcoma.
A 6&-year-old man is re*erred to the endocrine clinic with a complaint that his shoe
si?e has gone "p *rom si?e to si?e 11 and his wedding ring no longer *its him. He is
sweating a lot and his wi*e complains he is snoring more at night. (hich o* the tests
'elow is most "se*"l *or con*irming a diagnosis o* acromegaly+
A >G// with GH meas"rements ,orrect answer
B @er"m 6G;-1 le#el
, @)"ll M-ray
. !andom GH le#el
E 5!6 o* the pit"itary *ossa
A 35-g oral gl"cose tolerance test 2>G//4 is the Jgold standard- *or a diagnosis o*
acromegaly. 6n normal people the growth hormone 2GH4 le#el s"ppresses d"ring the
test% '"t in patients with acromegaly it is not s"ppressed. /his is 'eca"se ins"lin and
GH are antagonistic hormones. !andom le#els o* GH and ins"lin-li)e growth *actor-1
26G;-14 may 'e raised% '"t as there is a wide range o* normal a single meas"rement is
not s"**icient to ma)e the diagnosis. A dynamic test 2the >G//4 is reC"ired. Both a
s)"ll M-ray and an 5!6 scan are li)ely to 'e a'normal in patients with acromegaly.
Pit"itary t"mo"rs in acromegaly are "s"ally macroadenomas. As other secretory and
non-secretory t"mo"rs o* the pit"itary can also 'e macroadenomas these tests wo"ld
not con*irm the patient had acromegaly% tho"gh they wo"ld 'e "sed in the diagnostic
wor)-"p.
A 4&-year-old man presents with a ser"m calci"m concentration o* 1.&5 mmol/l% and
"rinary calci"m e0cretion o* 1$ mg/$4 h. /here is no history o* renal stones%
pancreatitis% depression or any prior illness. He was re*erred 'y a partic"larly ?ealo"s
GP and "nderwent parathyroidectomy. (hich o* the *ollowing is tr"e+
A
He has hyperparathyroidism that is li)ely to ha#e 'een c"red 'y the
s"rgery
B =rinary calci"m e0cretion is increased
, 6nheritance is a"tosomal dominant
,orrect
answer
. Ac"te pancreatitis is commonly associated with the condition
E /he 'ody has an increased a'ility to sense raised calci"m le#els
/his is not hyperparathyroidism. /his is *amilial hypocalci"ric hypercalcaemia. 6t has
an a"tosomal-dominant pattern o* inheritance with #irt"ally complete penetrance. /he
hetero?ygotic state is commonly asymptomatic% '"t homo?ygotes present with se#ere
hypercalcaemia soon a*ter 'irth and reC"ire parathyroidectomy. >ccasionally a
s"'gro"p o* ad"lt hetero?ygotes does present with rec"rrent pancreatitis and may
reC"ire parathyroidectomy. /he m"tation ca"ses a red"ced a'ility *or the calci"m
sensor to detect hypercalcaemia% so the 'ody tolerates le#els o* ser"m calci"m that
wo"ld "s"ally 'e said to 'e o"tside the normal range.
A $8-year-old woman who is 1 months- postpart"m comes to the s"rgery complaining
o* tiredness% she has had no periods since the 'a'y was 'orn and she has 'een "na'le
to 'reast-*eed 'eca"se o* a lac) o* mil) prod"ction. 9o" notice in her case sheet that
she reC"ired a 'lood trans*"sion a*ter deli#ery *or postpart"m haemorrhage. (hat is
the most li)ely diagnosis+
A Empty sella syndrome
B Felson-s syndrome
, Prolactinoma
. @heehan-s syndrome ,orrect answer
E @ipple-s syndrome
@heehan-s syndrome is hypopit"itarism *ollowing pregnancy complicated 'y
haemorrhage at the time o* deli#ery. /he haemorrhage and associated hypotension is
tho"ght to ca"se pit"itary in*arction. Patients *ail to lactate and remain amenorrhoeic
postdeli#ery% and also de#elop other pit"itary hormone de*iciencies o* the thyroid and
adrenal a0is. Felson-s syndrome is seen in patients with pit"itary-dri#en ,"shing-s
syndrome many years a*ter 'ilateral adrenalectomy. @"ch patients are deeply
pigmented. Empty sella syndrome is associated with hypopit"itarism% imaging o* the
pit"itary *ossa shows no o'#io"s pit"itary tiss"e. /he ca"se is "n)nown. @ipple-s
syndrome is 5EF$ 2hyperparathyroidism% med"llary thyroid t"mo"rs and
phaeochromocytoma4.
A $4-year-old st"dent has 'een reco#ering at home a*ter a period o* intensi#e care and
general medical admission *or meningococcal septicaemia. >ne wee) a*ter discharge
*rom hospital she #isits her GP complaining o* di??iness on standing and pro*o"nd
tiredness. >n e0amination she loo)s tired and Jwashed o"t- and does indeed ha#e
post"ral hypertension. Blood testing re#eals a sodi"m concentration o* 1$1 mmol/l%
potassi"m o* 6.3 mmol/l and "rea o* 15.& mmol/l. @he has mild normochromic%
normocytic anaemia. (hat is the most li)ely "nderlying diagnosis+
A @econdary adrenal ins"**iciency 9o"r answer
B (aterho"seG;riderichsen syndrome ,orrect answer
, 5E
. @yndrome o* inappropriate A.H
E Hypothyroidism
(aterho"seG;riderichsen syndrome is 'ilateral adrenal haemorrhage occ"rring d"e to
massi#e septicaemia% o*ten associated with se#ere% li*e-threatening meningococcal
disease. 6t may present as in this patient with tiredness% lethargy and post"ral
hypotension a short period a*ter discharge *rom the precipitating illness. ,lassically%
la'oratory *indings associated with adrenal ins"**iciency are hyponatraemia%
hyper)alaemia% ele#ated "rea% anaemia% ele#ated E@!% eosinophilia and mild
hypercalcaemia. /he commonest ca"se in the western world is a"toimm"ne disease
23&E4% closely *ollowed 'y malignancy% altho"gh /B is a common association in the
de#eloping world. Emergency treatment o* adrenal ins"**iciency in#ol#es *l"id
replacement% i# hydrocortisone and gl"cose s"pplementation% o*ten e#en prior to
determining the "nderlying ca"se.
A 41-year-old woman presents with weight loss% palpitations% diarrhoea and a
cessation o* periods. @he has 'een treated 'y her GP *or an0iety. E0amination re#eals
a single nod"le on the le*t o* her thyroid% a'o"t 1.5 cm in diameter. /hyroid scanning
with techneti"m shows increased "pta)e within the nod"le with red"ced acti#ity
thro"gho"t the rest o* the gland. /hyroid *"nction tests showed a *ree thyro0ine o* 1&
pmol/l 2G$5 pmol/l4% /@H O &.&5 m=/l 2&.5G54. Based "pon these *indings% what
wo"ld 'e the de*initi#e treatment+
A !adioacti#e iodine therapy ,orrect answer
B ,ar'ima?ole
, @"rgical e0cision 9o"r answer
. Propanolol therapy
E High-dose car'ima?ole therapy with thyro0ine replacement
/o0ic thyroid nod"les pre*erentially ta)e "p radioacti#e iodine. /his ma)es them
partic"larly amena'le to radioacti#e iodine treatment. A dose o* 1&&G5&& 5BC is
"s"ally s"**icient to c"re the thyroto0icosis. !adioiodine therapy is contraindicated in
children and women who are lactating or pregnant% and where the sa*ety o*
coha'itants *rom the e**ects o* radioacti#ity can-t 'e g"aranteed. @"rgery is the ne0t
'est option *or patients in whom radioiodine is contraindicated or re*"sed.
,ar'ima?ole alone or in com'ination with thyro0ine replacement is "sed in the
medical treatment o* Gra#e-s diseaseK Propanolol is a "se*"l symptom relie#er *or
thyroto0icosis
A 1&-year-old woman is e#al"ated in the endocrinology clinic *or increased "rine
o"tp"t. @he weighs 6& )g and has a $4-ho"r "rine o"tp"t o* 15&& ml. Her 'asal "rine
osmolality is $1& m>sm/)g. @he "ndergoes a *l"id depri#ation test and her "rine
osmolality a*ter *l"id depri#ation 2loss o* weight 1 )g4 is 15& m>sm/)g. A s"'seC"ent
inDection o* s"'c"taneo"s ..AIP 2desmopressin acetate4 did not res"lt in a *"rther
signi*icant rise o* "rine osmolality a*ter $ ho"rs 2155 m>sm/)g4. (hich o* the
*ollowing is the li)ely diagnosis+
A Formal 9o"r answer
B Primary polydipsia ,orrect answer
, >smotic di"resis 9o"r answer
. Pit"itary dia'etes insipid"s
E Fephrogenic dia'etes insipid"s
.ia'etes insipid"s 2.64 is s"spected when the "rine o"tp"t is : 5& ml/)g per day
2$&&& ml *or a 6&-)g *emale4. 6* the 'asal "rine osmolality is : 1&& m>sm/)g% it
s"ggests an osmotic di"resis. 6* *l"id depri#ation ca"ses a "rine osmolality : 1&&
m>sm/)g% it s"ggests psychogenic 2primary4 polydipsia. 6* not% it is either pit"itary or
nephrogenic .6. /hese are di**erentiated 'y the administration o* s"'c"taneo"s
..AIP which ca"ses an increased "rine osmolality : 1&& m>sm/)g in pit"itary .6.
A $5-year-old o#erweight woman presents with hirs"tism and oligomenorrhoea. @he
has 'een "na'le to concei#e *or 18 months. /he adrenals appear normal on "ltraso"nd
scanning% '"t an o#arian "ltraso"nd scan re#eals n"mero"s small cysts in 'oth
o#aries. (hich o* the *ollowing is li)ely to *it 'est with her diagnosis+
A /he 7H/;@H ratio is li)ely to 'e normal
B
@e0 hormone-'inding glo'"lin is low in 5&E o* s"**erers with this
condition
,orrect
answer
, /estosterone le#els are "s"ally normal
. ;ertility is "s"ally "na**ected 'y this condition
E .HEA@ is "s"ally normal or low
/his is polycystic o#arian syndrome 2P,>@4. /he pre#alence o* P,>@ is estimated to
range *rom 8 to $$E o* women. >ligo/amenorrhoea is present in 3&E% hirs"tism in
6&E% o'esity in 15E and in*ertility in 1&E. 7H is "s"ally mar)edly raised% as is the
7H/;@H ratio. @e0 hormone-'inding glo'"lin is low in 5&E o* s"**erers. d"e
primarily to hyperins"linaemia. /estosterone and .HEA@ 2dehydroepiandrosterone4
le#els are also "s"ally raised. =p to 4&E o* women with P,>@ may ha#e impaired
gl"cose tolerance% and "p to 1&E *ran) type-$ dia'etes mellit"s. /he ins"lin-resistant
state is also associated with dyslipidaemia. 5anagement is "s"ally with weight loss
and li*estyle ad#ice. 5et*ormin is a "se*"l treatment *or ins"lin resistance and may
help restore *ertility% altho"gh clomi*ene may also 'e reC"ired *or o#"lation ind"ction.
7ocal creams and electrolysis may ha#e a "se*"l role to play i* the primary complaint
is one o* hirs"tism.
A 44-year-old woman has attended ANE on a n"m'er o* occasions this year 'eca"se
o* renal tract stones. @he has also s"**ered depression d"ring the past year or two. @he
is *o"nd to ha#e a ser"m calci"m o* 1.1& mmol/l 2$.4G$.64% creatinine o* 118 mol/l
and al'"min o* 4& g/l. (hat is her most li)ely "nderlying diagnosis+
A Hyperparathyroidism ,orrect answer
B ;amilial hypercalcaemic hypocalci"ria
, 5"ltiple endocrine neoplasia
. Hypoparathyroidism
E Pse"dohypoparathyroidism
/his woman most li)ely has hyperparathyroidism. Hyperparathyroidism is a *eat"re in
5E o* patients with 5EF-1 2m"ltiple endocrine neoplasia G type 14 and may coe0ist
with prolactin- or growth hormone-prod"cing pit"itary adenomas% pancreatic islet cell
t"mo"rs% non-*"nctioning adrenal adenomas or thyroid adenomas. As part o* the
5EF-$ syndrome% there is an association with phaeochromocytoma% ,"shing-s
syndrome and med"llary carcinoma o* the thyroid. @hort metacarpals 2"s"ally the
*o"rth or *i*th4 are associated with pse"dohypoparathyroidism% which% in t"rn% is
associated with hypocalcaemia d"e to an a'normality o* the G-protein receptor *or
parathyroid hormone. 6n the case o* parathyroid hyperplasia or parathyroid adenoma%
a s"rgical sol"tion is the 'est option where symptoms s"ch as renal stones ha#e 'eg"n
to appear.
A 1$-year-old woman presents with e0treme lethargy a co"ple o* wee)s a*ter the 'irth
o* her third child 'y emergency caesarean section. @he complained to the health
#isitor o* increasing pro'lems some 3 days earlier% '"t was told that this was to 'e
e0pected a*ter the 'irth o* her child. >n admission #ia cas"alty she was noted to ha#e
a sodi"m concentration o* 1$3 mmol/l% a potassi"m concentration o* 6.8 mmol/l and a
"rea o* 1$ mmol/l. (hat is the li)ely diagnosis+
A @heehan-s syndrome ,orrect answer
B Hypothyroidism
, Primary adrenal *ail"re 9o"r answer
. Postnatal depression
E .ehydration
@he has s"**ered a period o* hypotension and 'lood loss associated with her
emergency caesarean section. /his has res"lted in pit"itary in*arction% and she
presents now with symptoms o* hypoadrenalism. @he% o* co"rse% reC"ires *l"id
rehydration and emergency steroid replacement with i# hydrocortisone. @he will also
ha#e pit"itary-dependent hypothyroidism and reC"ire thyro0ine replacement.
!estoration o* *ertility is more di**ic"lt% p"lsed deli#ery o* pit"itary se0-a0is
hormones is "s"ally reC"ired. Postnatal depression and simple dehydration are
somewhat "nli)ely with this set o* 'lood res"lts.
A 13-year-old woman presents to the endocrine clinic with a history o* hirs"tism% acne
and oligomenorrhoea. @he is ha#ing di**ic"lty losing weight and has searched the
6nternet and thin)s she may ha#e polycystic o#arian syndrome. @he wants to disc"ss
the implications o* this. (hich o* the *ollowing is the most important iss"e to disc"ss
with her at this stage o* her li*e+
A E0ercise regimens 9o"r answer
B .oes she want to ha#e children ,orrect answer
, Her 'lood gl"cose le#el
. /reatment *or her hirs"tism
E (eight-red"ction diets
All the a'o#e are rele#ant and each sho"ld 'e disc"ssed. /he hirs"tism and acne can
'e #ery di**ic"lt to deal with and can ca"se distress *rom a cosmetic point o* #iew.
/here are a #ariety o* treatment options '"t .ianette 2cyproterone acetate4 is pro'a'ly
the most e**ecti#e% along with cosmetic treatments li)e wa0ing% sha#ing% pl"c)ing or
electrolysis. Her *"t"re ris) o* type-$ dia'etes and associated cardio#asc"lar ris) is
#ery important and she sho"ld 'e ad#ised a'o"t the need *or li*estyle treatments and
the need to lose weight and e0ercise reg"larly to red"ce the chance o* this happening.
6t is now recommended that all patients with P,>@ ha#e their *asting 'lood gl"cose
le#el meas"red ann"ally to pic) "p dia'etes at an earlier stage. Howe#er% the most
important iss"e in a woman o* her age is *ertility% as women with P,>@ *reC"ently
reC"ire assistance with conception. Her age is against her i* she is going to ha#e
pro'lems with *ertility and reC"ires help to concei#e. /he commonest treatment is to
ind"ce o#"lation with clomi*ene. @he needs to 'e ad#ised that pregnancy also carries
an increased ris) o* gestational dia'etes.
A 4$-year-old man is re*erred to the hypertension clinic *or ad#ice. He is c"rrently
ta)ing atenolol% 'endro*l"a?ide and ramipril and his 'lood press"re is c"rrently
165/1&5 mmHg. E0amination is otherwise "nremar)a'le. His potassi"m is 1.&
mmol/l% with a ser"m 'icar'onate concentration o* $8 mmol/l% creatinine 85 mol /l%
gl"cose tolerance is normal. (hat is the most li)ely "nderlying diagnosis+
A ,"shing-s disease
B Primary hyperaldosteronism ,orrect answer
, Essential hypertension
. !enal artery stenosis
E Phaeochromocytoma
/here is e#idence o* hypo)alaemic meta'olic al)alosis% pro'a'ly associated with
primary hyperaldosteronism. Primary hyperaldosteronism acco"nts *or at least $E
and perhaps "p to 1&E o* hypertensi#e patients. /he aldosteroneArenin ratio is li)ely
to 'e raised i* the patient is o** antihypertensi#e medication% as is "rinary potassi"m
e0cretion. 6t is important% howe#er% to do the 'lood testing in the morning% a*ter a
period o* standing and wash o"t o* this man-s antihypertensi#es *or a period o* $
wee)s i* possi'le. Hyperaldosteronism does respond to some e0tent to spironolactone%
'"t s"rgery is the treatment o* choice *or ,onn-s adenoma. Bilateral adrenal
hyperplasia% gl"cocorticoid-s"ppressi'le hyperaldosteronism and adrenal carcinoma
are other ca"ses.
A 5$-year-old woman sees her GP complaining o* a 4-)g weight gain% dry hair and
s)in% she *eels slow and always has the heating "p high. @he has a small di**"se goitre.
Her /@H le#el is $& m=/l and *ree thyro0ine 5 g/dl. /hyroid pero0idase anti'ody is
positi#e at high titres. @he has two sisters who ha#e had thyroid disease. (hat is the
most li)ely diagnosis+
A .eP"er#ain-s thyroiditis
B ;ollic"lar carcinoma
, Hashimoto-s thyroiditis ,orrect answer
. Gra#es- disease
E Fod"lar goitre
Hashimoto-s thyroiditis is an a"toimm"ne thyroid disorder *o"nd more o*ten in
women than men. 6t is associated with positi#e thyroid anti'odies and there may 'e a
goitre that tends to 'e di**"se rather than m"ltinod"lar. /he gland is in*iltrated with
lymphocytes and patients can 'ecome hypothyroid. .eP"er#ain-s thyroiditis is not
associated with positi#e anti'odies and tends to present with pain*"l swelling in the
nec). Gra#es- disease is also an a"toimm"ne thyroid disorder '"t patients ha#e
hyperthyroidism and not hypothyroidism. ;ollic"lar carcinoma can present with a
thyroid swelling '"t not hypothyroidism.
A 35-year-old woman who has had type-$ dia'etes mellit"s *or the last 15 years is
admitted *or cataract s"rgery. @he is ta)ing met*ormin 5&& mg 'id% plain ins"lin 1& =
at night% ramipril $.5 mg od and 'endro*l"methia?ide 2'endro*l"a?ide4 $.5 mg od. @he
is a smo)er. 6n#estigations showedA
B5 1.& mmol/lK "rea 1& mmol/lK creatinine 14& mmol/lK Fa 11& mmol/lK H 1.3 mmol/l.
7i#er *"nction tests 27;/s4 were normal and arterial 'lood gas meas"rements showed
a pH 3.1% p2,>
$
4 5.1 )Pa and H,>
1
13 mmol/l. (hich one o* the *ollowing is the
most detrimental in these circ"mstances and sho"ld 'e stopped+
A !amipril
B 5et*ormin ,orrect answer
, 6ns"lin
. @mo)ing
E Bendro*l"methia?ide 2'endro*l"a?ide4
5et*ormin is a 'ig"anide "sed as an oral hypoglycaemic agent. /he maDor to0icity o*
met*ormin is lactic acidosis. 6t sho"ld not 'e "sed in patients with renal ins"**iciency
2creatinine : 111 mol/l in males and : 1$4 mol/l in *emales4% any *orm o* acidosis%
congesti#e heart *ail"re% li#er disease or se#ere hypo0ia. As it is meta'olised in the
li#er% it is contraindicated in patients with li#er disease or a high alcohol
inta)e.!amipril% an angiotensin-con#erting en?yme inhi'itor 2A,E64% is indicated *or
the treatment o* dia'etic nephropathy with al'"min"ria. 6t may potentiate the
hypoglycaemic e**ect o* ins"lin and oral antidia'etic agents% especially d"ring the *irst
*ew wee)s o* "se. 6t sho"ld 'e "sed "nder specialist s"per#ision i* the creatinine
concentration is : 15& mol/l% and renal *"nction and potassi"m le#els monitored.
/his patient has long-standing dia'etes with nephropathy. Hypoglycaemia is common
with nephropathy and is tho"ght to 'e d"e to the decreased meta'olism o* ins"lin.
.ecreasing renal *"nction can ca"se meta'olic acidosis% either o* which is a
contraindication *or treatment with met*ormin.@mo)ing can accelerate dia'etic
nephropathy. Bendro*l"methia?ide 2'endro*l"a?ide4 can 'e sa*ely contin"ed.
A 1&-year-old man and his wi*e present to a reprod"cti#e endocrinology clinic
'eca"se o* in*ertility. /he man is tall with 'ilateral gynaecomastia. E0amination o* the
testes re#eals 'ilateral% small% *irm testes. (hich o* the *ollowing in#estigations is
most li)ely to 'e a'normal in someone with Hline*elter-s syndrome+
A ,/ scan o* the pit"itary gland
B ,hromosomal analysis ,orrect answer
, 5eas"rement o* ser"m gonadotrophins
. 5eas"rement o* ser"m testosterone
E @emen analysis
Hline*elter-s syndrome is a genetic disorder with an e0tra M chromosome% gi#ing a
genotype MM9. 6t is "s"ally diagnosed in late p"'ertal or early ad"lt li*e 'eca"se o*
delayed se0"al de#elopment or in*ertility. 6t is associated with hypogonadism gi#ing
raised gonadotrophin le#els and low testosterone le#els. @emen analysis wo"ld show
a?oospermia. Gynaecomastia is o*ten present. ,/ 'rain scan will 'e normal. /he other
tests are appropriate *or in#estigation o* male in*ertility. /here are other ca"se o*
in*ertility that wo"ld gi#e high gonadotrophin and low testosterone le#elsK any
primary testic"lar disorder wo"ld gi#e this pattern% eg cryptorchidism% m"mps
orchitis% haemochromatosis% myotonic dystrophy and alcohol a'"se. /he only test that
is speci*ic *or Hline*elter-s syndrome is a genetic test *or the MM9 genotype.
A 13-year-old yo"ng woman is re*erred to the endocrine clinic with primary
amenorrhoea. @he is o* normal height and weight. @he has moderate hirs"tism. A male
co"sin was seen in the clinic at the age o* 8 years with precocio"s p"'erty. (hat is the
most li)ely ca"se *or her primary amenorrhoea+
A ,ongenital adrenal hyperplasia ,orrect answer
B Hyperprolactinaemia
, Polycystic o#arian syndrome
. /"rner-s syndrome
E /estic"lar *eminisation syndrome
/"rner-s syndrome 2genotype M>4 is associated with primary amenorrhoea and short
stat"re. Hyperprolactinaemia and P,>@ are more commonly associated with
secondary amenorrhoea. /estic"lar *eminisation ca"ses primary amenorrhoea and is
ca"sed 'y either a partial or complete androgen-receptor de*ect. A**ected patients are
genotypically male 2M94 '"t phenotypically *emale. ,ongenital adrenal hyperplasia is
most commonly ca"sed 'y $1-hydro0ylase de*iciency. @e#ere *orms present in
in*ancy with salt-losing crises and *emales can ha#e am'ig"o"s genitalia. 5ilder
*orms ca"se precocio"s p"'erty in 'oys and #irilism% hirs"tism and primary
amenorrhoea in girls. .iagnosis is 'y *inding raised ser"m 13-hydro0yprogesterone
le#els that show a hyperresponsi#eness to A,/H. /reatment is with gl"cocorticoids.
A $3-year-old woman with type-1 dia'etes mellit"s attends *or her ro"tine re#iew and
says she is )een on 'ecoming pregnant. (hich o* the *ollowing is the *actor most
li)ely to ma)e yo" as) her to de*er pregnancy at this stage+
A 5inor 'ac)gro"nd retinopathy
B H' A
1,
.4E ,orrect answer
, @he hasn-t 'een ta)ing *olic acid
. 5icroal'"min le#el o* 6-mg e0cretion in $4 ho"rs 9o"r answer
E @ensory ne"ropathy
Pregnancy in type-1 dia'etes is still associated with a two- to three*old increase in
congenital a'normalities when compared with the 'ac)gro"nd pop"lation. 6t is also
associated with higher neonatal mor'idity and mortality and higher operati#e deli#ery
rates. Prepregnancy co"nselling with the aim o* 'ringing the H' A
1c
to near-normal
le#els is associated with 'etter pregnancy o"tcomes. .ia'etic retinopathy can
progress d"ring pregnancy and the eyes m"st 'e chec)ed at least once each trimesterK
i* there is progression that is sight-threatening then the patient sho"ld 'e re*erred to an
ophthalmologist. Bac)gro"nd retinopathy wo"ld not 'e a contraindication to
pregnancy. /he microal'"min le#el is within normal limits. Fephropathy can also
progress d"ring pregnancy% '"t microal'"min"ria wo"ld not 'e a contraindication to
pregnancy and nor wo"ld sensory ne"ropathy. 6t is important that patients with
dia'etes ta)e 5 mg *olic acid daily prepregnancy 2this red"ces ne"ral t"'e de*ects4 and
this can 'e started when the patient starts trying to concei#e% altho"gh it sho"ld ideally
'e ta)en *or 1 months 'e*orehand. /he most important thing this woman can do is to
impro#e her glycaemic control 'e*ore trying to concei#e
A 38-year-old man is admitted to hospital with a le*t hemiparesis and altered
conscio"sness. He is on aspirin 35 mg% 'endro*l"a?ide $.5 mg% ator#astatin 1& mg and
gli'enclamide 15 mg daily. His wi*e says he has 'een "nwell *or a co"ple o* days and
has 'een o** his *ood. @he has still 'een gi#ing him all his medication. (hich o* the
*ollowing tests is going to 'e most help*"l in *inding an immediately re#ersi'le ca"se
*or his symptoms+
A Blood gl"cose le#el ,orrect answer
B ,/ 'rain scan
, E,G
. @er"m creatinine le#el
E /roponin le#el
Hypoglycaemia in the elderly is a not "ncommon pro'lem% e#en i* only treated with
oral hypoglycaemic agents. Gli'enclamide has a long hal*-li*e and sho"ld there*ore 'e
a#oided in the elderly. /he red"ced *ood inta)e and the ongoing inta)e o* medication
in this patient is li)ely to ha#e ca"sed hypoglycaemia% which can 'e associated with
ne"rological symptoms in the elderly. /he ne"rological symptoms will resol#e
promptly with intra#eno"s de0trose. Altho"gh a myocardial in*arction or a
cere'ro#asc"lar accident co"ld ha#e ca"sed his symptoms% they wo"ld not 'e
immediately re#ersi'le.
An 18-year-old yo"ng man presents to his GP with thirst and poly"ria. @ome 6
months pre#io"sly he had a signi*icant head inD"ry as the res"lt o* a road tra**ic
accident. He is re*erred to the local endocrine clinic. (hich o* the *ollowing res"lts
wo"ld 'e the most "se*"l in con*irming a diagnosis o* dia'etes insipid"s a*ter a water
depri#ation test+
A Plasma sodi"m o* 1$6 mmol/l
B Plasma sodi"m o* 15& mmol/l
,
Plasma osmolality o* 115 m>sm/)g and "rine osmolality o* 3&&
m>sm/)g
.
Plasma osmolality o* $8& m>sm/)g and "rine osmolality o* 3&&
m>sm/)g
9o"r answer
E
Plasma osmolality o* 115 m>sm/)g and "rine osmolality o* $&&
m>sm/)g
,orrect
answer
.ia'etes insipid"s 2.64 can 'e d"e to cranial .6 with complete or partial de*iciency o*
antidi"retic hormone 2A.H% #asopressin4% or renal .6 d"e to renal t"'"lar de*ects
a**ecting the action o* A.H on water rea'sorption *rom the renal t"'"les. /he plasma
sodi"m can 'e normal or ele#ated% depending on whether the patient can contin"e to
drin) *reely and so pre#ent dehydration. A low plasma sodi"m concentration is
associated with @6A.H 2syndrome o* inappropriate A.H4. /he diagnostic test to
con*irm .6 is a water depri#ation test. /he ina'ility to concentrate the "rine d"ring the
test res"lts in the plasma osmolality rising and the "rine osmolality remaining dil"te.
Formal plasma osmolality is $85G1&5 m>sm/)g. /he higher the "rine osmolality the
more concentrated it is.
A 54-year-old man% newly diagnosed with type-$ dia'etes mellit"s% presents to the
clinic *or his *irst assessment. He is *o"nd to ha#e changes in his eyes on *"ndoscopy.
(hich o* the *ollowing is most li)ely to need immediate re*erral to the
ophthalmologist+
A A *ew dot and 'lot haemorrhages
B @ome hard e0"dates : 1 disc diameter *rom the *o#ea
, ,ataract
. Few #essels on the disc ,orrect answer
E /wo so*t e0"dates in the temporal *ield
Bac)gro"nd dia'etic retinopathy consists o* dot and 'lot haemorrhages and hard
e0"dates. Patients do not need to 'e re*erred to the ophthalmologist "nless these are
within 1 disc diameter o* the *o#ea. /his can 'e monitored ann"ally at the ro"tine
clinic. ,ataracts appear a'o"t 1& years earlier in type-$ dia'etes than in non-dia'etic
patients. 6* the #ision is signi*icantly a**ected the patients warrant ro"tine and not
"rgent re*erral to the ophthalmologist. @o*t e0"dates s"ggest retinal ischaemia% which
wo"ld reC"ire ro"tine re*erral to the ophthalmologist. Few #essels anywhere in the
*"nd"s are a *eat"re o* proli*erati#e retinopathy and% as new #essels ha#e a ris) o*
haemorrhage and can threaten sight% they sho"ld 'e re*erred "rgently to the
ophthalmologist