Background: Congenital hypothyroidism due to thyroid dysgenesis is a frequent congenital endocrine disorder for which the molecular mechanisms remain unresolved in majority of cases. This situation reflects, part, our still limited knowledge about involved early steps specification from endoderm, particular extrinsic signaling cues that regulate foregut endoderm patterning. In this study, we us...

perrault's syndrome (p.s.) is rare. the combination of gonadal dysgenesis and hearing loss was accompanied by 46,xxkaryotype in three sisters with parental consanguineous marriage. genetic investigation revealed normal female karyotype, positive liarr and negative fluorescence ipj-bodies, which was confirmed by molecular study on the basis of fluorescence in situ hybridization (pish), with appl...

Following the initial description of an ectopic thyroid by Verneuil, ( 1 ) it remained only as an anatomical curiosity for many years. Hunt ( 2 ) described dysphagia and obstruction of the upper larynx caused by a lingual thyroid and suggested the clinical importance of this entity. Mont gomery ( 3 ) has reviewed most of the reported cases, and observed that surgi cal ablation of the ectopic ti...

BACKGROUND Congenital hypothyroidism is often secondary to thyroid dysgenesis, including thyroid agenesis, hypoplasia, ectopic thyroid tissue or cysts. Loss of function mutations in TSHR, PAX8, NKX2.1, NKX2.5 and FOXE1 genes are responsible for some forms of inherited congenital hypothyroidism, with or without hypoplastic thyroid. The aim of this study was to analyse the PAX8 gene sequence in s...

A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation o...

3390 ETG, the most frequent form of thyroid dysgenesis, refers to the presence of thyroid tissue in locations other than the normal anterior neck region.[1] It remains a rare disease.[1,2] Moreover, females account for 65–80% of ETG cases.[3] Although ETG has been understood gradually, diagnostic delay in ETG remains common, and this delay compounded with inappropriate therapeutic methods is re...

Rare diseases are usually defined as entities affecting less than 1 person per 2,000. About 7,000 different rare entities are distinguished and, among them, rare diseases of the thyroid gland. Although not frequent, they can be found in the everyday practice of endocrinologists and should be considered in differential diagnosis. Rare non-neoplastic thyroid diseases will be discussed. Congenital...

BACKGROUND Congenital hypothyroidism from thyroid dysgenesis (CHTD) is predominantly a sporadic disease characterized by defects in the differentiation, migration or growth of thyroid tissue. Of these defects, incomplete migration resulting in ectopic thyroid tissue is the most common (up to 80%). Germinal mutations in the thyroid-related transcription factors NKX2.1, FOXE1, PAX-8, and NKX2.5 h...