Searchable abstracts of presentations at key conferences in endocrinology

ea0013p19^ | Endocrine tumours and neoplasia | SFEBES2007

Genetic background influences expression of Multiple Endocrine Neoplasia type 1 (MEN1) mutation, implicating a role for genetic modifiers

Lemos Manuel , Harding Brian , Thakker Rajesh

The Multiple Endocrine Neoplasia type 1 (MEN1) gene is located on chromosome 11q13 and patients with mutations develop parathyroid, pancreatic and pituitary tumours. MEN1 mutations also cause familial isolated primary hyperparathyroidism (FIHP) and the same MEN1 mutations, in different families, can cause either FIHP or MEN1. This emphasises the importance of genetic background in altering the expression of a mutation, and suggests the presence of genetic ...

ea0041gp184 | Reproduction & Endocrine Disruption | ECE2016

Impaired DHEA sulfation defines androgen excess in women with polycystic ovarian syndrome (PCOS)

Kempegowda Punith , O'Reilly Michael W , Hassan-Smith Zaki , Storbeck Karl-Heinz , Taylor Angela E , Arlt Wiebke

Context: Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women of classic androgen synthesis. Recent work has highlighted that impaired DHEA sulfation results in enhanced androgen production. Here, we evaluated the relationship between DHEA and DHEAS and androgen excess and metabolic phenotype in PCOS.Patients and methods: We compared 65 women with PCOS to 35 healthy women matched for age and body mass index (BMI). All subject...