Endocrine Abstracts

Leri-Weill Dyschondrosteosis (LWD) is a skeletal dysplasia resulting in short stature and mesomelic limb-shortening; Madelung deformity of the wrist is often present. Mutation or deletion of the SHOX gene is the underlying cause of LWD. SHOX plays a role in regulating proliferation and maturation of chondrocytes. It is located in the pseudoautosomal region of the sex chromosomes (Xp22.3/Yp11.3); males and females usually have 2 functioning copies. Turner synd...

Turner syndrome results from the complete or partial lack of one X chromosome and occurs in approximately 1:2500 female live births. The incidence of spontaneous puberty in the 45, X karyotype is about 9%. Spontaneous pregnancy has been reported in less than 5% of the cases, the majority of which have been described in subjects with mosaicism; these are often associated with high rates of miscarriage and stillbirth.A 51-year-old check-out supervisor was ...

The autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is an autosomal recessive disorder characterized by immune deficiency and the autoimmune destruction of endocrine organs such as the parathyroids, adrenal cortex and ovaries. APECED is caused by biallelic germline mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which is expressed in thymic medullary epithelial cells and plays a key role ...

The autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is an autosomal recessive disorder characterized by immune deficiency and the autoimmune destruction of endocrine organs such as the parathyroids, adrenal cortex and ovaries. APECED is caused by biallelic germline mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which is expressed in thymic medullary epithelial cells and plays a key role ...

Introduction: There is limited literature on autoimmune haematological disorders (AIHD) such as autoimmune thrombocytopenia (ITP), autoimmune haemolytic anaemia, and autoimmune neutropenia (AN) in Turner syndrome (TS) although autoimmune disorders are more common in TS.Methodology: Retrospective analysis of a clinic database, to identify patients with AIHD out of all the patients followed up in a specialised TS clinic. (...