ECE2017 Eposter Presentations: Reproductive Endocrinology Clinical case reports - Thyroid/Others (2 abstracts)
A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient
Katrin Feller 1 , Christa Flück 2 , Laura Audi 3 , Mónica Fernández-Cancio 3 & Christoph Stettler 1
1Department of Diabetology, Endocriniology, Clinical Nutrition and Metabolism, University Hospital of Bern, Bern, Switzerland; 2Department of Pediatrics, Divsion of Pediatric Endocrinology and Diabetology, University Hospital of Bern, Bern, Switzerland; 3Pediatric Endocrinology Research Unit Vall d’Hebron Institut de Recerca, Universitat Autonoma de Barcelona, Barcelona, Spain.
The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male internal urogenital tract. We describe the case of an adult patient having migrated from Pakistan to Switzerland in whom a steroid 5-alpha-reductase 2 deficiency was diagnosed at the age of 29. Molecular genetic analysis identified a homozygous point mutation in exon 4 of the 5-alpha-reductase 2 gene, leading to an amino acid change from glutamic acid to lysine. To our knowledge, this is the second case of this mutation in the steroid 5-alpha-reductase 2 gene (SRD5A2) which was first described in 1997 (Anwar et al.).
Volume 49
Article tools
My recent searches
My recently viewed abstracts
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more