Congenital Hypothyroidism

Liu Min

Beijing Children’s 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 To promote metabolism and accelerate the

metabolism 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, To promote growth and development and

organization, maturate.
bone

Central neural To promote development, especially in the

system fetal period and infancy
 Etiology
1.Thyroaplasia and (or) Ectopia
– accounting for 90% of cases
– ⅓ of cases are dysgenesis
– the other ⅔ 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
Congenital Hypothyroidism

20
Laboratory findings
• Tests of serum T4，TSH
– 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(软骨发育不良)
Short limbs
Prominent forehead
X-ray
 Differential diagnosis
Mucopolysacchridosis
粘多糖病

claw hand

hepatosplenomegaly

肋骨飘带状改变 characteristic ribbon bandlike

 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 1st year
• Every 3-4months between 1-3 yrs
• Every 6 months thereafter
• 2-4wks after any change in dosage
Levothyroxine /Dose

AGE/year DOSE:  g/ kg/day

• 0-1 10-15
• 1-3 4-6
• 3-10 3-5
• 10-16 2-4
• Adult 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 μIU/mL (0.35 –
4.94μIU /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 cm3.
– 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 4μg/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