Searchable abstracts of presentations at key conferences in endocrinology

ea0063p312 | Reproductive Endocrinology 1 | ECE2019

Normosmic hypogonadotropic hypogonadism associated with a novel TACR3 mutation

Valdes-Socin Hernan , Libioulle Cecile , Lebrethon Marie Christine , Corman Vinciane , Debray Francois Guillaume , Dideberg Vinciane , Beckers Albert

Introduction: Neurokinin B (NKB) is a neurotransmitter, regulating GnRH. NKB activates its receptor TACR3. Recessive mutations of TACR3 are associated with a phenotype of normosmic hypogonadism.Case report: A 17 years old man born in Turkey, present with pubertal delay. He is treated 3 years with testosterone and he is reevaluated without treatment. He is 1.79 m and 1.85 arm span, testicular volume: 3 and 4 ml. He has no olfactory troubles. Testosterone ...

ea0041ep615 | Endocrine tumours and neoplasia | ECE2016

Genetic predisposition to breast cancer occurring in a male-to-female transsexual patient

Potorac Iulia , Corman Vinciane , Manto Florence , Dassy Sarah , Segers Karin , Thiry Albert , Bours Vincent , Daly Adrian F , Beckers Albert

Introduction: Breast cancer affects less than 1% of all male cancer patients. In 5–20% of cases, genetic predisposition is involved, mostly due to mutations of the BRCA2 gene. Hormonal imbalance between oestrogens and androgens is another predisposing factor. Male-to-female (MtF) transsexual patients usually undergo long-term cross-sex hormone therapy, which could expose them to higher risks of developing hormonally-dependent cancers.We rep...