Congenital hypothyroidism (CH) is a relatively frequent and potentially severe disease. It is classically subdivided into: 1) thyroid dysgenesis (TD), a defect in the organogenesis of the gland leading to hypoplastic, ectopic, or absent thyroid gland; or 2) thyroid dyshormonogenesis, a defect in one of the biochemical mechanisms responsible for thyroid hormone synthesis. Most cases of TD are sp...

Thyroid dysgenesis (TD) resulting from defects during embryonic thyroid development represents a major cause of congenital hypothyroidism. The pathogenetic mechanisms of TD in human newborns, however, are still poorly understood and disease-causing genetic variants have been identified in only a small percentage of TD cases. This limited understanding of the pathogenesis of TD is partly due to ...

Thyroid hormones are essential for skeletal development and are important regulators of bone maintenance in adults. Childhood hypothyroidism causes delayed skeletal development, retarded linear growth and impaired bone mineral accrual. Epiphyseal dysgenesis is evidenced by classic features of stippled epiphyses on X-ray. In severe cases, post-natal growth arrest results in a complex skeletal dy...

s of the 51st Workshop for Pediatric Research 51st Workshop for Pediatric Research Göttingen, Germany

A retrospective review of medical records of 80 children with thyroid dysgenesis (TD) was conducted to determine the association of gender and maternal age with TD. The study subjects were attending the Pediatric Endocrinology Clinic of our hospital which is a large tertiary care Multispecialty Pediatric Center located in Chandigarh, Northwest India. There were no gender differences (boys to gi...

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...

OBJECTIVES We aimed to investigate the reliability of thyroid ultrasonography (US) and scintigraphy in determining the type of thyroid dysgenesis (TD). METHODS The study included 82 children (8.0±5.6 years) with a diagnosis of TD by thyroid scintigraphy with (99m)Tc and/or US. The patients were re-evaluated 6.0±5.1 years after the diagnosis. Thyroid US was performed in all cases, regardless o...

Congenital hypothyroidism is one of the causes mental retardation in children that can be prevented if recognized and treated early. Thyroid hormones play a role development central nervous system. It known 95% CH do not show typical clinical signs symptoms at birth duration early intervention to prevent short. Therefore, most developed countries have conducted neonatal screening programs for d...