hrp0089p2-p368 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

A Case of Gonadal Dysgenesis Due to a Novel Homozygous Mutation in NR5A2 Gene

Denzer Friederike , Denzer Christian , Hornig Nadine , Holterhus Paul-Martin , Hiort Olaf , Wabitsch Martin

Background: Steroidogenic factor (SF1, NR5A2) regulates multiple genes known to be involved in gonadal development, adrenal development, steroidogenesis, and gonadotroph development. Heterozygous mutations in the NR5A1 gene have been described in association with mild to severe gonadal dysgenesis with or without adrenal failure. Homozygous mutations are rare and have also been described in association with gonadal dysgenesis with or without adrenal failure.<p class="abstex...

hrp0082p1-d3-134 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Can Hypothalamic Obesity be Treated with Stimulants?

Denzer Friederike , Lennerz Belinda , Denzer Christian , Wabitsch Martin

Background: Published case reports and anecdotal experience suggest a positive effect of dexamphetamine on impetus and weight in patients with hypothalamic obesity.Objective and hypotheses: We aimed to observe these effects in our patients who are offered off-label treatment with dexamphetamine.Method: Between 2010 and 2013, patients starting dexamphetamine treatment were enrolled in a prospective observation study. BMI–SDS wa...

hrp0092p1-262 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Long-Term Outcome in Leydig Cell Hypoplasia

Boncompagni Alessandra , Bryce Jillian , Lucaccioni Laura , Iughetti Lorenzo , Acerini Carlo , Cuccaro Rieko T , Bertelloni Silvano , Hannema Sabine E , Darendeliler F Feyza , Poyrazoglu Sükran , Denzer Friederike , Batista Rafael L , Domenice Sorahia , Latronico Ana C , Mendonça Berenice B , Rey Rodolfo , Ahmed S Faisal

Background: Leydig Cell Hypoplasia (LCH) is a very rare autosomal recessive condition that is manifested by a wide spectrum of phenotypes, ranging from completely female external genitalia to male genitalia. Long-term outcome in these patients is unclear.Objectives: To assess sex assignment, clinical characteristics and long-term outcome of 46,XY LCH cases.Patients and Methods: Thr...