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Ratna Dewi Artati

Hypothyroidism (H)  def prod of the
thyroid hormone or defects thyroid
hormone receptor activity.
Thyroid hormones are crucial for :
Normal growth and development of the
brain and intellectual function, during
prenatal and early postnatal period.
Maturation of the foetal lungs and
Proper sexual maturation.

Delayed diagnosis  growth failure and/or
irreversible mental retardation.
Diagnosis and initiation of appropriate
thyroid hormone treatment within
about the first 4 weeks of life 
can prevent mental retardation
and growth failure.

.Most infants with the disease have no obvious clinical manifestations at birth neonatal screening of thyroid function should be performed on all newborns.

.  producing 2 thyroid hormones in its follicular cells : triiodothyronine (T3) and tetraiodothyronine (T4) or thyroxine. Thyroid hormones  synthesised in adult as long as the dietary iodine supersedes 75 µg daily  prevent goiter formation.The thyroid gland  maintain the metabolic level of almost all cells in the body.


The hypothalamic-pituitary-thyroid axis  controls the thyroid gland function and growth. The production and release of thyroid hormone  contolled by thyroid-releasing hormone (TRH) from hypothalamus . .


. goitrous or nongoitrous. sporadic or familial.Epidemiology H  acquired or congenital. Congenital hypothyroid syndrome (CH) a child is born with a def in thyroid gland activity or thyroid hormone levels.

.The overall Incidence of CH  1 in 3000 to 1 in 4000 newborn infants. the majority (90%) permanent CH. Sex  female : male = 2 : 1. Incidence of CH  higher in Hispanic and lower in black individuals. Infants with Down Syndrome  increased risk.

etiology unknown. –Theories suggest environmental teratogens. Thyroid dyshormonogenesis(familial) –Mutations in genes that code for specific enzymes and cofactors that are required for thyroid hormonogenesis . ectopicplacement of the gland and hypoplasia. –Includes agenesis (athyreosis). –No goiter palpable on exam.Etiology Thyroid dysgenesis (sporadic form) –Most common cause.

antithyroid drugs (PTU). –Generally associated with other pituitary hormone .Etiology Transient Hypothyroidism –5 to 10% of infants detected with CH. –Maternal autoimmune thyroiditis with transplacental passage of maternal. –Maternal iodine deficiency. -TSH-receptor-blocking antibodies leading to inhibition of TSH action on the infant’s thyroid gland. Hypothalamic-Pituitary (TSH deficiency) –Secondary (pituitary) or tertiary (hypothalamic) defects are rare.

Etiology Thyroxine-binding globulin deficiency –Low total T4 –Normal free T4 –X-linked dominant disorder –1 in 2400 male births –Euthyroid and does not require thyroid hormone replacement .

2. and growth of the thyroid gland (thyroid dysgenesis) the thyroid gland is either absent. or not in its proper location (80-85%). migration. Abnormalities of formation. Abnormalities of enzymatic reaction steps involved in thyroid hormone production or release (thyroid dyshormonogenesis) deficiency of or an abnormality in one of .Permanent types of CH can be separated into the following 3 categories: 1. markedly under-developed.

but the messenger hormone TSH is either not produced or released properly from the pituitary gland  the thyroid gland does not receive the TSH signal required for the normal production and release of thyroid hormone (<5%).3. Abnormalities of the formation or function of the hypothalamus and/or pituitary (central hypothyroidism) the thyroid gland forms and descends properly. .

failure to gain weight .Clinical features of CH: At birth : Postmaturity. birth weight >4 kg Transient hypothermia Large posterior fontanel (>5 mm) Goitre Early signs : Placid. sleepy. hypoactivity Poor feeding.

Later signs : Failure to thrive Dry skin. hair Umbilical hernia Macroglossia Myxoedema Hoarse cry Slow responses Delayed development Growth failure .

generally > 50 for classic) Low total or free T4 (varies for age) Can also have normal T4 (subclinical) •Central Hypothyroidism Low serum total and free T4 Low or normal TSH •Thyroid binding globulin deficiency Low total T4. normal free T4 Normal TSH TYPE FT4 TSH Primary   Seconda  ry  Tertier   .Diagnosis •Primary Hypothyroidism Elevated TSH (>20 mU/L.

thyroi disease. (2) Physical Examination (3) Biochemical Thyroid Function Tests Confirmatory measurement of TSH and T4 levels .CLINICAL MANAGEMENT OF INFANTS WITH SUSPECTED CH : (1) History Maternal history of endemic iodine deficiency. exposure to antithyroid drugs and goitrogens.

(a) Absent gland  athyreosis or severe hypoplasia Indicates permanent hypothyroidism (b) Decreased uptake at the normal site  thyroid hypoplasia .(4) Bone Maturation X-ray of both knees should be taken to assess bone maturation bone age delayed (5) Thyroid Scintigraphy There has been controversy whether early thyroid scanning should be performed before commencement of thyroid replacement therapy.

(c) Ectopic gland Indicates permanent hypothyroidism Usually sporadic (d) Normal scan enzyme defect or transient hypothyroidism .

10 6 – 12 months 6-8 1 – 5 yrs 4-6 6 – 12 yrs 3-5 > 12 yrs 2-4 . daily 0 – 3 months 10 .thyroxine by age: Age mcg/kg/dose.Treatment Initial doses of L-thyroxine: 10-15 μg/kg/day General doses of L.15 3 – 6 months 8 .

.Normalize TSH to ensure optimal thyroid hormone dosage and compliance .Goal of therapy : . .4-2.Maintain T4 and FT4 in the upper half of reference range during the first 3 years of life. serum T4 should be 10-16 mcg/dL and free T4 should be 1.In first year of life.3 ng/dL.

Follow-up: • Monitor T4 / TSH at regular intervals • Monitor growth (weight / height) • Development assessment .

• At more frequent intervals when compliance is questioned or abnormal results are obtained. . • Every 6 to 12 months until growth is completed. • Every 3 to 4 months between 6 months and 3 years of age. • Every 1 to 2 months during the first 6 months of life.AAP recommends measurement of serum T4 or free T4 and TSH according to the following schedule:• At 2 and 4 weeks after the initiation of L-T4 treatment .

consider permanent CH. If initial TSH is <50 mU/L and there is no increase in TSH after newborn period. If TSH increases off therapy. CH is permanent. then trial off therapy at 3 y of age. .Assessment of permanence of CH : If the thyroid scan shows ectopic/absent gland.

Prognostic Factors Early diagnosis and therapy Severity at diagnosis Initial replacement dose: high (10-15 mg/kg/d)  better Etiology: ectopic better Compliance: education (parents. family doctor) .

80 .107 35 .Prognosis Age of treatment (months) Inverse relationship between age at clinical diagnosis of congenital hypothyroidism and IQ outcome 0-3 3-6 >6 Mean 89 71 54 IQ Range 64 .96 25 .

or fine motor coordination problems. Long term sequelae mild mental retardation. . hearing deficit. speech difficulty. short attention span.Prognosis Detected and treated early in life prognosis is quite good.

Neonatal Screening .

Improvements in screening and therapy  improved developmental outcomes .mental retardation .replacement therapy starts before 3 months of age  favorable prognosis.Screening CH  .high prevalence .

. central hypothyroidism.Screening Method 1. Primary TSH with Backup T4 Measurements. and hypothyroxinemia will be missed.delayed TSH elevation in infants with thyroidbinding globulin (TBG) deficiency. . . .supplemented by T4 determinations for infants with elevated TSH values.primary TSH measurements.

Primary T4 with Backup TSH Measurements. .will detect primary hypothyroidism in infants with low or low-normal T4 with elevated TSH concentrations infants.Screening Method 2. . . identify infants with TBG deficiency and central hypothyroidism (low or low-normal T4 with normal TSH concentration).T4 measurement is followed by a measurement of TSH with low T4 values.will miss an infant with an initially normal T4 concentration and delayed increase in TSH. .

Screening Method 3. Combined Primary TSH Plus T4 Measurements. . .Ideal screening approach.

Screening Method .

.Management of CH Initial workup : Detailed history and physical examination Referral to pediatric endocrinologist Recheck serum TSH and FT4 Thyroid ultrasonography and/or thyroid scan Medication : L-T4 : 10-15 µg/kg once daily Monitoring.

Terima Kasih .