hrp0084p2-435 | Gonads | ESPE2015

Clinical Criteria Remain Paramount for the Diagnosis of Polycystic Ovary Syndrome in the Adolescent Age Group

de Vries Liat , Weinberg Adi , Phillip Moshe

Background: Adolescent polycystic ovary syndrome (PCOS) may be difficult to distinguish from pubertal changes and diagnosis remains a challenge.Objective and hypotheses: To investigate the value of different biochemical parameters for the diagnosis of PCOS and also to assess the prevalence of non-classical congenital adrenal hyperplasia (NCCAH) among adolescent girls referred for clinical symptoms suggesting PCOS.Method: Retrospect...

hrp0086p1-p349 | Gonads & DSD P1 | ESPE2016

Severe 5 Alpha Reductase 2 Deficiency with Aphallia is Caused by p.Y91H SRD5A2 Mutation and is Responsive to Dihydrotestosterone Administration During Childhood

Auerbach Adi , Weinberg Shokrun Ariella , Abdelhak Najwa , Lavi Eran , Hidas Guy , Landau Yehezkel , Levy-Lahad Ephrat , Zangen David

Background: 5-alpha-reductase-2 (5α-RD2) deficiency is an autosomal recessive 46,XY disorder of sexual development, characterized by undervirilized prepubertal males with ambiguous genitalia. The pubertal rise in testosterone and 5α-RD1 isoenzyme activity causes virilization, often resulting in gender assignment change. Early precise diagnosis which anticipate adult function is critical for treatment and gender assignment.Objective and hypothes...