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A seven year old boy presents with six month history of pubic hair. Physical examination reveals a healthy appearing boy with facial acne and slight amount of pubic hair. Testes measures 2cm bilaterally.

A. How will you proceed?

1. X-ray to assess bone age 2. 17 hydroxyprogesterone Dihydroepiandrosterone sulfate FSH, LH,Testesterone

1. Bone age 8 years 2. DHEAS, 17 OHP Normal 3. FSH, LH Pre-pubertal What is the diagnosis?

Premature adrenarche. This term applies to the appearance of sexual hair before the age of 8 yr in girls or 9 yr in boys without other evidence of maturation

C. How will you differentiate from congenital adrenal hyperplasia?

ACTH stimulation. 17-OHP will increase more than 4 fold in CAH 17-OHP will increase marginally in premature adrenarche

A 14 year old girl presents with 1. Ht < 3rd cent 2. No breast development 3. Slight amount of pubic hair h/o corrective surgery for coarctation of aorta at 2 year of age.

A. What do you think?

Delayed puberty Coarctation of aorta

? Turner syndrome

B. How will you work up?

1. Bone age will be delayed 2. FSH, LH 3. Karyotype 45 XO

C. How will you treat?

1. Hormone replacement 2. Growth hormone if presents early

D. What are the indications of Growth hormone therapy ?

1. 2. 3. 4.

GHD-Hypothalamic-pituitary disease Idiopathic short stature < -2.25 SD Chronic renal failure before transplant IUGR babies not catching up growth by 2 years 5. Turner syndrome, Prader Willi syndrome

A 11 year old girl presents for a routine physical examination 1. Height 3rd centile; Weight 5th centile 2. Mother 411 Father 54 3. Girls wt and ht were at 40th % at birth and slowly dropped to current % by 18 months and continued to grow along 3rd to 5th %.

What is your diagnosis? What is the most common cause of short stature?

Constitutional delay of growth Familial short stature

A newborn infant was found to have bilateral cryptorchidism and proximal hypospadias.

What is the diagnosis? Why could be the life-threatening event?

CAH It leads to adrenal crisis.

2. What is the most common cause of CAH?

21 hydroxylase deficiency It is also the most common cause of ambiguous genitalia.

3. State other hormone deficiencies of CAH.

1.11 hydroxylase deficiency 2.17 hydroxylase deficiency 3.3 hydroxysteroid dehydrogenase def 4.Lipoid adrenal hyperplasia

A 28 wk gestation, 950 gm, male infant is noted to have T4 of 4.2ug/dL and TSH of 20.6uU/mL at 2 weeks of age. There are no symptoms suggestive of congenital hypothyroidism.

1. What are normal values?

T4 6.0 16.0 uG/dL after 1 week TSH 0.5 5 uU/mL in term infant 25% of premature <25 weeks T4<6.5uG/dL 50% of premature <30 weeks T4<6.5uG/dL T4 of 6 or < must be further investigated

2. What are diagnostic possibilities?

1. Thyroid dysgenesis 2. Dyshormonogenesis 3. Transient hypothyroxemia (hypoplastic immaturity of prematurity low T4, N TSH, no therapy) 4. Transient hypothyroidism (temporary I2 deficiency, use of iodides. Low T4, therapy indicated) 5. TBG deficiency

3. What is next step?

1. Obtain serum levels of free T4 and free TSH. 2. If free T4 is low therapy for 4-6 weeks 3. If free T4 normal, no therapy 4. Thyroid scan aplasia vs. hypolplasia

A 16 year old girl is noted to have thyroid enlargement and T4.

1. What are the diagnostic possibilities?

1. Graves disease 2. Thyroiditis toxic Hashimotos disease subacute thyroiditis 3. TSH induced hyperthyroidism Pituitary adenoma 4. Autonomous functioning nodule McCune Albright syndrome.

2. What are the common symptoms of Graves disease?

Behaviour changes Poor grades Bad handwriting Mood swings Fatigue Insomnia

3. How will you diagnose?

TSH, total T3, T4, freeT4 TSH receptor antibodies Antithyroid antibodies Radioiodine uptake

4. What is the treatment?

Antithyroid drugs Radioablation Surgery