Endocrine Abstracts

Introduction: Primary parathyroid carcinoma accounts for less than 1% of the parathyroid gland tumours and almost always presents as primary hyperparathyroidism. Very few Turner syndrome patients have been reported so far to present with primary hyperparathyroidism secondary to parathyroid adenoma. We report a case of parathyroid carcinoma in a 59 years old lady with Turner syndrome who is presenting with recurrent mild hypercalcemia.Case presentation: A...

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semapho...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction: Diabetes Mellitus (DM) is 2–4 times more common in Turner Syndrome (TS) than karyotype normal females. Diagnosis of DM in TS is usually based on age of presentation and insulin dependency without regard for DM- autoimmunity. Previous research has identified DM associations with the isochromosome and ring chromosome. However, only small numbers of diabetics have been included in reports so far. Here we present preliminary data on DM characterisation in TS.</p...

Background: Turner syndrome (TS) comprises a group of sex chromosome anomalies affecting approximately 15,000 in the UK. TS affects every organ system in the body through haploinsufficiency of genes that are normally expressed by both X chromosomes. Common features include short stature, congenital heart diease and gonadal dysgenesis requiring long-term oestrogen replacement but the adult phenotype extends to excess risk of diabetes, hypertension and hepatosteatosis. UCLH has ...

Women with Turners Syndrome (TS) have been shown to have reduced bone mineral density (BMD) but there is uncertainty about how this relates to fracture risk. The little data that does exist is conflicting, with one case series finding no difference compared to controls and one survey suggesting an increased risk of fracture particularly of the forearm. Proposed mechanisms for reduced BMD include short stature, oestrogen deficiency and bone dysplasia. In addition, fracture risk...