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Review Articles Congenital Hypothyroidism BANGLADESH J CHILD HEALTH 2017; VOL 41 (2): 101-109 Review Articles Congenital Hypothyroidism – An Update FARZANA RAHMAN CHOWDHURY1, AKM MATIUR RAHMAN2, URMI RAHMAN3 Abstract Hypothyroidism is a common disorder of the endocrine system in which the thyroid gland does not produce enough thyroid hormone. The most cases of congenital hypothyroidism (CH) is from thyroid dysgenesis. The worldwide incidence CH is 1:3000- 4000 live births and prevalence rate of CH in Bangladesh is 0.9%. The thyroid gland is the first endocrine structure in fetus. Triiodothyronine (T3) and thyroxine (T4) appear by 12 weeks of gestation. CH is classified into permanent and transient. Permanent CH requires life-long treatment. Common symptoms of CH are feeding difficulty, prolonged jaundice, lethargy, constipation and not growing well. Newborn with CH will have puffy face, wide posterior fontanelle, wide open sutures and later on umbilical hernia, coarse facies, macroglossia and cold or mottled skin are common signs. Measurement of T4 and TSH as newborn screening are appropriate approach with interpretation of T4 below 10th centile or TSH above 90th centile or absolute cut-offs such as T4 < 6.5 ug/dL and TSH > 20mu/L. The diagnosis of primary CH is confirmed by the finding of an elevated serum TSH level and a low free T4 or total T4. Early T4 replacement in children with CH is crucial for neurological outcome. A high starting dose of 10–15 ìg/kg/day is recommended by AAP and European Society for Paediatric Endocrinology (ESPE). The T4 levels normalize in first 3 days of initiation of treatment, while TSH levels take up to 1 month for normalization. Routine follow-up with biochemically adjustment of doses of Levothyroxine can completely normalize the children of CH. Key words: Thyroid gland, Hypothyroidism, Thyroxin, TSH Introduction Congenital Hypothyroidism (CH) is one of the most Hypothyroidism, also called underactive thyroid or low common preventable causes of mental retardation. thyroid, is a common disorder of the endocrine system Epidemiology in which the thyroid gland does not produce enough thyroid hormone1. This disorder may be manifested from The incidence varies by geographic location. The birth (congenital) or acquired. Most cases of congenital worldwide incidence is 1:3000-4000 live births and in hypothyroidism are not hereditary and result from thyroid India it is 1:2500-2800 live births.1 One small study dysgenesis and some cases are familial2. Most infants done at institute of nuclear medicine, Dhaka shows with congenital hypothyroidism are detected by newborn that prevalence rate of CH in Bangladesh is 0.9%.5,6 screening programs in the first few weeks after birth, The incidence was somewhat lower in Whites (1:1815) before obvious clinical symptoms and sign develops. and Blacks (1:1902), and highest in the Asian population (1:1016). Older mothers (>39 years) had a higher 1. Assistant Professor of Pediatrics, Popular Medical College, incidence (1:1,328) compared to younger mothers (< Dhanmondi, Dhaka 20 years, 1:1,703). It was higher in preterm vs. term 2. Professor of Pediatrics, Popular Medical College, Dhanmondi, 3 Dhaka infants. Nearly all screening programs report a female 3. Registrar of Pediatrics, Popular Medical College, Dhanmondi, preponderance, approaching 2:1 female to male ratio.4 Dhaka Correspondence: Dr. Farzana Rahman Chowdhury, Assistant Thyroid gland development in fetus Professor of Pediatrics, Popular Medical College, House-25, Road -2, Dhanmondi, Dhaka. Mobile: 01715786329 The thyroid gland is the first endocrine structure Received: 03 April, 2017 Accepted: 05 July 2017 appearing during development. The median thyroid BANGLADESH J CHILD HEALTH 2017; VOL 41 (2) : 111 Congenital Hypothyroidism – An Update anlage, which forms the follicular cells of thyroid, For the remaining one-third of cases, CH results from appears on the floor of pharynx on day 20–22 of absence of thyroid (athyrosis) and thyroid hypoplasia. development. The histogenesis is complete by tenth Hereditary inborn errors in the enzymatic cascade of week of gestation.5 Expression of several genes that thyroid hormone synthesis, also called code for multiple thyroid (thyroid transcription factor- dyshormonogenesis, or to defects in peripheral thyroid 1 or TTF-1, also known as TITF1, NKX2.1, and T/EBP; hormone transport, metabolism, or action are TTF-2, also known as TITF2, FKHL15, and FOXE-1; accounted in approximately 15% of cases.12 PAX-8) and pituitary (PIT1, PROP1, LHX3, LHX4, HESX1) transcription factors are important for fetal Secondary congenital (central) hypothyroidism may gland development.6 Recent data suggest that Tbx1– be isolated which results from mutation in thyroid Fgf8 pathway in the pharyngeal mesoderm is a key stimulating hormone â (TSHâ) subunit gene or TRH size regulator of mammalian thyroid gland.7 receptor gene. More often it is associated with congenital hypopituitarism, which may be due to Triiodothyronine (T3) and thyroxine (T4) appear by 12 mutation in transcription factor gene regulating pituitary weeks of gestation and TSH by 10–12 weeks. Fetal development i.e. HESX1, LHX4, PIT1 and PROP1.13 thyroid axis does not function independently till midgestation, when transplacental T4 transfer is Transient CH in newborn may be due to maternal extremely important for fetal brain growth. Maternal thyrotropin receptor-blocking antibodies, exposure to T4 is taken up by astrocytes and converted by type II maternal antithyroid medications, iodine deficiency monodeiodinase to T3 in brain, which is required for and iodine excess. normal development of neocortex. For this reason, Symptoms untreated hypothyroidism in the mother may result in Symptoms of congenital hypothyroidism are initially poor neurodevelopmental outcome in the infant.8 nondescript; however, the maternal and pregnancy Classification history may provide some clues. In twenty percent, 11 Congenital hypothyroidism is classified into permanent gestation extends beyond forty-two weeks . One may and transient CH.9 Permanent CH refers to a persistent also find evidence of maternal autoimmune thyroid deficiency of thyroid hormone that requires life-long disease or an iodine deficient diet. Inadvertent treatment. Transient CH refers to a temporary radioactive iodine treatment during pregnancy is rare. deficiency of thyroid hormone, discovered at birth, but These babies are quiet and may sleep through the then recovering to normal thyroid hormone production. night. Additional symptoms include a hoarse cry and Permanent CH can be further classified into permanent constipation. Neonatal hyperbilirubinemia for more primary and secondary (or central) CH. In addition, than three weeks is common. This is due to 2 some forms of CH are associated with defects in other immaturity of hepatic glucuronyl transferase. The organ systems; these are classified as syndromic most common symptoms were prolonged jaundice, 2 hypothyroidism.9 lethargy, feeding difficulty and constipation. Etiology Signs In the majority of patients, CH is caused by an abnormal The most common signs on initial examination are development of the thyroid gland (thyroid dysgenesis) umbilical hernia, macroglossia and cold or mottled which is usually a sporadic disorder and accounts for skin.12 Thyroid hormone is also important in the 85% of cases. It presents in three major forms i.e. formation and maturation of bone.13 thyroid ectopy, athyreosis and thyroid hypoplasia. Deficiency of this can lead to a wide posterior fontanel Thyroid ectopy accounts for two thirds of cases of thyroid dysgenesis and is twice more common in of greater than 5 mm. A few infants with congenital females10. The exact etiology of thyroid dysgenesis is hypothyroidism may have a palpable goiter. This is not known. However; mutations in transcription factor usually found in thyroid dyshormonogenesis. The genes that regulate thyroid gland development [thyroid typical appearances of a hypothyroid infant include transcription factor 2 (TTF-2), NKX2.1 (also termed TTF- jaundice, a puffy face and a wide posterior fontanelle 1) or PAX-8] would explain these defects. But, only 2% with open sutures. The nasal bridge is flat and the of cases with thyroid dysgenesis are found to have eyes exhibit pseudohypertelorism. The mouth may such genetic mutations.11 be slightly open revealing macroglossia. Further Congenital Hypothyroidism – An Update BANGLADESH J CHILD HEALTH 2017; VOL 41 (2) : 112 examination would reveal bradycardia and a respiratory distress and neurologic problems such as protuberant abdomen with a large umbilical hernia. benign hereditary chorea and ataxia.16,17 One clinical Neurologic examination findings include hypotonia with manifestation of long standing congenital delayed reflexes. Skin may be cool to touch and hypothyroidism is the Kocher-Debre- Semelaigne mottled in appearance reflecting circulatory syndrome. This presents as promixal muscle compromise.11 weakness associated with calf hypertrophy and resolves with thyroid hormone treatment.18 Diagnosis The diagnosis of CH is made after detection by NBS in most of the developed countries19. A complete diagnostic evaluation includes detection of CH by NBS, followed by confirmation by repeat thyroid function testing, and use of available modalities to determine the exact underlying etiology. Neonatal screening and confirmatory tests Blood from a heel prick (or cord) collected on special filter paper cards usually between 2 and 5 days of age is sent for either initial TSH or initial T4 test,
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