Introduction: Congenital hypothyroidism is the most common cause of preventable mental retardation in children. However, early diagnosis and treatment improve the prognosis of mental retardation. Clinical diagnosis of Congenital hypothyroidism is not also evident in the neonatal period. Therefore, screening all newborns for early diagnosis and treatment is essential. This paper aimed to analyze...

The growth of 361 children with congenital hypothyroidism diagnosed by screening was assessed by estimating mean values for height, weight, body mass index (BMI), and head circumference on each birthday up to the age of 4 years. In the group of children with severe congenital hypothyroidism (pretreatment plasma thyroxine < or = 30 nmol/l), the mean heights at 1 and 2 years were less than standa...

Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and (99m)Tc radionuclide thyroid scintigraphy. Malformations were identified by clinical exa...

OBJECTIVE To review the screening program for congenital hypothyroidism in the Riyadh Al-Kharj Hospital Programme, Riyadh, Kingdom of Saudi Arabia, and to investigate the clinical and biochemical characteristics of affected infants. METHODS The study was carried out from 1985 to 2000 in the Clinical Chemistry Division, Department of Pathology, Riyadh Armed Forces Hospital, Kingdom of Saudi Ar...

Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically ...

CONTEXT Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence, it is still unclear whether the frequently reported cognitive and motor deficits observed during childhood persist in adulthood. OBJECTIVE The objective of this study was to examine cognitive and motor functioning in young ad...

2/17 Clinical Features: Congenital hypothyroidism is a condition characterized by inadequate availability of active thyroid hormone to target tissues in the newborn period. It can be sporadic or inherited. In 80 to 85% of cases, congenital hypothyroidism is the consequence of thyroid dysgenesis due to absent (athyreosis), abnormally located (ectopic), or small (hypoplastic) thyroid gland (1). C...

BACKGROUND Several genetic defects are associated with permanent congenital hypothyroidism. Immunologic, environmental, and iatrogenic (but not genetic) factors are known to induce transient congenital hypothyroidism, which spontaneously resolves within the first months of life. We hypothesized that molecular defects in the thyroid oxidase system, which is composed of at least two proteins, mig...

PURPOSE This study aimed to assess the characteristics of thyroid nodules among infants diagnosed with congenital hypothyroidism. METHODS A retrospective study of 660 infants (374 males, 286 females) diagnosed with congenital hypothyroidism was carried out at the Pediatric Endocrine Clinic in Soonchunhyang University Hospital, Korea, between May 2003 and February 2013. The average age at diag...