Congenital Hypothyroidism

Liu Min

Beijing Childrens Hospital
Pediatric Medical College
Capital Medical University

Purpose
To master the etiology of CH
To master the clinical manifestation of
CH
To master the diagnosis of CH
To understand the treatment of CH

Introduction
Definition
Hypothyroidism is a clinical syndrome
caused by deficiency of thyroid hormones,
which results in retardation of growth and
mental development.
Introduction
Classification
sporadic and endemic
primary and secondary

Incidence
1/5000~1/7000


Hypothalamic-pituitary-thyoid axis
thyrotropin-releasing
hormone (TRH)
thyroid-stimulating hormone
(TSH)
TRH and TSH control the
thyroid hormones synthesis
and releasing.
T4 and T3 reverse feedback
to reduce TSH and TRH
secreting.

What are the main effects of
thyroid hormones?
Main effects of thyroid hormones
Site of action The main effects
Energy
metabolism
To promote metabolism and accelerate the
oxidative process in the cell.
Glucose To promote to decompose the glycogen
and to organize assimilate and utilize of
sugar.
Protein To promote the synthesis, and rise the
energy of enzyme
Main effects of thyroid hormones
Site of action
The main effects
Fat To promote disassociation and exploitation
Cell,
organization,
bone
To promote growth and development and
maturate.

Central neural
system
To promote development, especially in the
fetal period and infancy

Etiology
1.Thyroaplasia and (or) Ectopia
accounting for 90% of cases
of cases are dysgenesis
the other of infants, rudiments of thyroid
tissue are found in an ectopic location,
anywhere from the base of the tongue (lingual
thyroid) to the normal position in the neck.
Etiology
2. Dys-synthesis of thyroid hormone
autosomal recessive inheritance
almost all cases have goiter
All various kinds of defects in the thyroid
hormone synthesis can lead to CH.
3. Hypothalamic or pituitary hypothroidism

Etiology
4. Insensitivity of thyroid gland or target
organs

5. Transitory hypothroidism
Maternal TSH receptor blocking antibody
Antithyroid drugs
Amiodarone
Organoiodine compound and I 131
Immature delivery



Etiology
6. Endemic congenital hypothyroidism
Decreased synthesis of thyroid hormones
caused by iodine deficiency
Iodine deficiency in diet during pregnancy


Clinical manifestations
Neonatal period
and infancy
95 percent of
newborn Infants
have few clinical
manifestations of
hypothyroidism
Why?
T4 crosses the placenta

Congenital Hypothyroidism

Clinical manifestations
(Neonatal period )
- Lethargy (sleep more) - Hoarse Cry

- Large Fontanel - Hypotonia

- Constipation - Macroglossia

- Dry Skin - Hypothermia

- Distended abdomen with
Umbilical Hernia - Prolonged Jaundice

- Feeding Problems (slow to feed)
Clinical manifestations
(childhood
Facial features
edematous face and lids, flat nose,macroglossia,
pachylosis (dry skin)
Central nervous system
mental retardation, slow response, somnolence,
delayed motor development
Clinical manifestations
(childhood
Growth
short stature, delayed bone age
Circulatory system
low heart sounds, enlarged heart, pericardial
effusion, ECG low voltage
Gastrointestinal system
poor appetite, abdominal distention,
constipation
20
Congenital Hypothyroidism

Laboratory findings
Tests of serum T4TSH
T4 , T3 ,TSH
Delayed bone age
Thyroid ultrasonography
Radioisotope Scanning
Provide information about the size and
location of the thyroid gland
Use 99mTc , 131 -I
TRH stimulation tests


Neonatal Screening

Developed in The Mid-1970s
Heel-stick Blood Specimen

Usually 2-3 Days After Delivery

- Thyroxine (T4) , Thyrotropin (TSH)

Worldwide
- 12 million infants are screened

- 3000 with hypothyroidism are
detected annually



Diagnosis
In neonatal period, to diagnosis is
difficulty, so neonatal screening is
important.
Before the appearance of characteristic
clinical symptoms, mental disturbance
has appeared ,so earlier period
diagnosis is important.

Diagnosis
History
epidemiology
family history
clinical manifestations
Physical examination
Lab tests


Differential diagnosis

Achondroplasia()

Short limbs
Prominent forehead
X-ray

Differential diagnosis

characteristic ribbon bandlike changes
hepatosplenomegaly
claw hand
Mucopolysacchridosis


Differential diagnosis

Congenital giant colon
Distended abdomen and constipation
Normal T4,TSH
Barium enema
Down Syndrome
facial features,
Karyotype analysis
The Goals of Treatment

To restore normal growth and
development

To achieve a normal IQ
Treatment
Levothyroxine
Goal: T4 1.2-2.3 ng/dL TSH <6 mU/L
Monitor T4 & TSH
Every 2 & 4 wks after treatment
Every 1-2 months in 1
st
year
Every 3-4months between 1-3 yrs
Every 6 months thereafter
2-4wks after any change in dosage
Levothyroxine /Dose

AGE/year
0-1
1-3
3-10
10-16
Adult


DOSE: g/ kg/day
10-15
4-6
3-5
2-4
2
Treatment
Except neonatal transient
hypothyroidism, it is necessary to take
thyroid hormone all the life to keep the
physiological function.
To adjust dose as needed
Prognosis and Prevent
No nervous system sequela occurs as the
therapy is begun after birth or in two months.
The earlier the time, the better the effects.
Because early discovery and treatment can
avoid thyroid hypo-function, so to perform
neonatal screening universally, to diagnose
promptly and to give full dosage treatment are
the best methods to prevent clinical thyroid
hypo-function.

Conclusion
There are few instances in the practice
of medicine where the health and welfare
of generations can be positively affected;
early treatment of congenital
hypothyroidism through newborn
screening is one of those instances
Clinical Example & Discussion

A 5-year-old boy

Chief Complaint:
growth arrest for 2 years
Clinical Example & Discussion

Present History:
Height increased 4cm during the last 3 years.
Weight increased markedly.
He has normal intelligence and normal
appetite.
His parents heights are normal.

Clinical Example & Discussion

PE: Weight 23kg Height 100 cm, T 36.5, P
80/min, R 22/min, BP 90/60mmHg.
Height and weight were below the third
percentile for age.
Dry skin, mild myxedema ,no pigmentation
Thyroid was not enlarged
Low cardiac sound
Puberty stage Tanner I

What examinations should we do?
Clinical Example & Discussion

Lab Tests
Blood-Rt, urinalysis and electrolytes: normal
Liver function and kidney function: normal
Endocrine hormone levels
ACTH, Cor, GH: normal
FT3 1.62 pmol/L (2.64 70pmol/L), FT4 5.15 pmol/L
(9.0 19. 05 pmol/L), TSH > 100 IU/mL (0.35
4.94IU /mL).



Clinical Example & Discussion

Imagination
Bone age: 3 years.
Thyroid ultrasonography: no thyroid on the neck but
detacted under the tongue.
Pituitary magnetic resonance imaging (MRI) showed
a symmetrical intrasellar and suprasellar mass,
measuring 1.65 x 1.65 x 1.5 cm
3
.
Echocardiography: mild pericardial effusion.

EKG: sinus rhythm, 79bpm, low T waves.
Question:

Diagnosis and Treatment?
Clinical Example & Discussion
Diagnosis
Congenital Hypothyroidism (ectopic thyroid)

Treatment
Levothyroxine (Dose?)
The beginning dose is from minimal (25 g/
d), children usually need 4g/kg.d )

Clinical Example & Discussion
after 3 months FT4 and TSH returned to normal
values and the pituitary mass regressed.

Growth stunt is a common chief complain of
hypothyroidism. This is a late onset CH patient
caused by ectopic thyroid.


3-months after treatment
11-months
THANK YOU