Volume 2015 Supplement 1

Abstracts from the 8th APPES Biennial Scientific Meeting

Open Access

Phenotype and genotype of patients with disorder of sex development due to 5α-reductase deficiency

  • Vu Chi Dung1,
  • Bui Phuong Thao1,
  • Nguyen Ngoc Khanh1,
  • Can Thi Bich Ngoc1 and
  • Maki Fukami2
International Journal of Pediatric Endocrinology20152015(Suppl 1):P112

https://doi.org/10.1186/1687-9856-2015-S1-P112

Published: 28 April 2015

A rare form of the 46,XY disorders of sex development (DSD), 5α-reductase deficiency was first described in patients with pseudovaginal perineoscrotal hypospadias, microphallus, and cryptorchid testes in 1974 by Imperato. This undervirilization in the male is due to an alteration in the 5α-reductase type 2 gene (SRD5A2), which encodes for 5α- reductase activity. Our registry of 750 patients with DSD showed no definitive diagnosis in 80% of cases with 46,XY DSD. Our aim is to identify mutations in SRD5A2 gene and to describe phenotype of detected mutative cases. Mutation analysis was performed for genomic DNA extracted from WBC of 10 patients with 46,XY DSD using PCR and direct sequencing. We identified mutations of SRD5A2 gene in two cases. The first case presented with isolated micropenis at birth, two palpable testes in the normal scrotum. Pelvic ultrasound showed no ovaries and uterus, karyotype was 46,XY and SRY was positive. Serum FSH level was 2.4 UI/L; LH level was 0.9 UI/L and testosterone level was 0.4 nmol/l at 8 years of age. A homozygous missense mutation (p.R237G) was identified in the SRD5A2 gene. The second case presented with microphaslus, penoscrotal hypospadias, gonad bilateral in labioscrotal folds. No uterus and ovaries were found by pelvic ultrasound. Karyotype was 46,XY and SRY was positive. A novel homozygous missense mutation (c.659C>T; p.S220L) was identified in the SRD5A2 gene. Mutation analysis of SRD5A2 gene helps to make definitive diagnosis for patients with 46,XY DSD.

Authors’ Affiliations

(1)
Department of Endocrinology, Metabolism and Genetics, National Hospital of Pediatrics
(2)
National Research Institute for Child Health and Development, Department of Molecular Endocrinology

Copyright

© Dung et al; licensee BioMed Central Ltd. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Advertisement