Searchable abstracts of presentations at key conferences in endocrinology

ea0041gp188 | Reproduction & Endocrine Disruption | ECE2016

Human 3β-hydroxysteroid dehydrogenase deficiency associated with a normal spermatic numeration despite a severe enzyme deficit, after an accomplished transition period

Donadille Bruno , Cabrol Sylvie , Houang Muriel , Lebouc Yves , Morel Yves , Netchine Irene , Christin-Maitre Sophie

Human 3β-hydroxysteroid dehydrogenase deficiency is a rare form of congenital adrenal hyperplasia resulting from HSD3B2 gene mutations, leading to steroidogenesis impairment in both adrenals and gonads. The transition period is important for a successful adult fertility, but information about fertility is lacking in this rare disease.The patient presented with salt wasting at birth in Trousseau Hospital. Consanguinity was present, since the parents ...

ea0020p45 | Adrenal | ECE2009

Long-term follow-up of a 46XX patient with congenital lipoid adrenal hyperplasia due to a new mutation of the steroidogenic acute regulatory protein gene

Albarel Frederique , Simonin Gilbert , Morel Yves , Brue Thierry , Reynaud Rachel

Congenital lipoid adrenal hyperplasia (CLAH) is a severe disorder characterized by early impairment of both adrenal and gonadal steroidogenesis, leading to early adrenal failure and male sex reversal. The most common aetiology of CLAH is mutation of Steroidogenic acute regulatory protein (StAR) gene.Objective: We report evolution over 20 years of a 46XX patient harbouring a novel StAR gene mutation.Methods: Clinical, hormonal and i...

ea0022oc4.5 | Adrenals | ECE2010

Effects of mitotane on testicular adrenal rest tumors size, sperm count and adrenal steroidogenesis in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Bachelot Anne , Salenave Sylvie , Renard Raphaelle , Rocher Laurence , Dulon Jerome , Coussieu Christiane , Brailly-Tabard Sylvie , Morel Yves , Touraine Philippe , Young Jacques

Testicular adrenal rest tumors (TART), described in patients with classic congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency, are responsible for Leydig cell failure and impaired spermatogenesis. These tumors, often unresponsive to intensified glucocorticoid therapy and surgical resection, may lead to infertility or even sterility. Here, we studied the effects of long term treatment with mitotane (Lysodren), a specific adrenolytic agent, on TART in 4 C...

ea0031p148 | Growth and development | SFEBES2013

The spectrum of associated congenital anomalies in disorders of sex development: a review of the I-DSD Registry

Cox Kathryn , Bryce Jillian , Jiang Jipu , Rodie Martina , Sinnott Richard , Alkhawari Mona , Arlt Wiebke , Audi Laura , Balsamo Antonio , Bertelloni Silvano , Cools Martine , Darendeliler Feyza , Drop Stenvert , Ellaithi Mona , Hiort Olaf , Hughes Ieuan , Lisa Lidka , Morel Yves , Soder Olle , Ahmed S Faisal

Background: Improved knowledge of the range of anomalies encountered in DSD may improve our understanding of the underlying aetiology. However, given the rarity of these conditions, thorough analysis of congenital anomalies in DSD has not previously been possible.Aims: To discover the frequency of congenital anomalies in DSD, and to identify patterns of anomalies within specific conditions.Methods: 1050 registered cases on The I-DS...