Searchable abstracts of presentations at key conferences in endocrinology

ea0016p301 | Endocrine tumours | ECE2008

Genetic testing of RET protooncogene in multiple endocrine neoplasie type 2 and medullary thyroid carcinoma

Grosz Ute S , Drexler Hjordis H S , Fleischer Sandra , Schulte Heinrich M

Introduction: Multiple endocrine neoplasia type 2 (MEN2) and medullary thyroid carcinoma (MTC) are autosomal-dominant inherited diseases caused by germline mutations within the RET protooncogene. Until now, genetic testing for mutations of exon 10, 11, 13, 14, 15 and 16 was recommended for these patients (familial and sporadic cases) to identify disease-causing mutations. Because of a strong genotype–phenotype correlation in these diseases, early genetic testing of...

ea0016p589 | Paediatric endocrinology | ECE2008

Hypospadias and micropenis in congenital adrenal hyperplasia: a case study

Fleischer Sandra , Grosz Ute S , Drexler Hjordis HS , Wusthof Achim , Schulte Heinrich M

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases with increased adrenal androgens secretion from the adrenal cortex, characterized by simple virilizing and salt wasting forms. Deficiency of 21-hydroxylase, caused by mutations in the 21-hydroxylase gene (CYP21A2) is the most frequent CAH, accounting for more than 90 percent of CAH cases. Deficiency of 3 beta-Hydroxysteroid-Dehydrogenase Type II is caused by mutations in the <i...

ea0016p22 | Adrenal | ECE2008

Free fatty acids affect urinary excretion of androgen precursors thereby linking metabolism and hyperandrogenemia in vivo: results of a randomized, controlled trial

Mai Knut , Bobbert Thomas , Reinecke Franziska , Andres Janin , Bahr Volker , Maser-Gluth Christiane , Wudy Stefan , Hartmann Michaela , Mohlig Matthias , Weickert Martin O , Schulte Heinrich , Diederich Sven , Pfeiffer Andreas , Spranger Joachim

Context: The polycystic ovarian syndrome (PCOS) is characterized by hyperandrogenism and associated with obesity and impaired glucose metabolism. Despite the high prevalence of PCOS and the considerable clinical impact, the precise interplay between metabolism and hyperandrogenemia is not entirely clear. We therefore aimed to analyse the relation between circulating free fatty acids (FFAs) and androgen metabolism in vivo in women.Design and partic...