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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Mericq, Veronica / Ogata, Tsutomu / Toppari, Jorma

12 Issues per year


IMPACT FACTOR 2017: 1.086

CiteScore 2017: 1.07

SCImago Journal Rank (SJR) 2017: 0.465
Source Normalized Impact per Paper (SNIP) 2017: 0.580

Online
ISSN
2191-0251
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Volume 23, Issue 4

Issues

Molecular Diagnosis of 46,XY DSD and Identification of a Novel 8 Nucleotide Deletion in Exon 1 of the SRD5A2 Gene

M. R. Nagaraja
  • *Department of Endocrinology and Metabolism, Banaras Hindu University, Varanasi-221 005, INDIA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Amit Rastogi
  • *Department of Endocrinology and Metabolism, Banaras Hindu University, Varanasi-221 005, INDIA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Rajiva Raman
  • Cytogenetics Laboratory, Department of Zoology, Banaras Hindu University, Varanasi-221 005, INDIA
  • Center for Genetic Disorders, Banaras Hindu University, Varanasi-221 005, INDIA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Dinesh K. Gupta
  • Department of Pediatric Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi-221 005, INDIA
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  • De Gruyter OnlineGoogle Scholar
/ S. K. Singh
  • Corresponding author
  • *Department of Endocrinology and Metabolism, Banaras Hindu University, Varanasi-221 005, INDIA
  • Center for Genetic Disorders, Banaras Hindu University, Varanasi-221 005, INDIA
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2010-09-17 | DOI: https://doi.org/10.1515/jpem.2010.059

SUMMARY

Phenotypic presentation of 46,XY DSD depends on the underlying defects. Defect in androgen action on the target tissues or production of active metabolite share common morphological features. Molecular study may help differentiating these abnormalities with precision. Mutational analysis of androgen receptor (AR) and SRD5A2 genes was performed in 29 subjects with 46,XY DSD, by PCR-SSCP. The amplicons that showed an aberrant migration in SSCP were subjected to sequencing. Interestingly, six patients from 4 unrelated families (a pair of sibs, uncle/nephew and other two isolated) were identified with mutations in SRD5A2 gene. In five patients p.R246Q missense mutation was detected, of which four were homozygous and one was compound heterozygous: g.80_87delT CGCGAAG (p.A27fsX132) and p.R246Q. Another patient with isolated micropenis harbored a heterozygous p.G196S missense mutation. No AR gene mutation was detected. In conclusion, our study suggests that p.R246Q mutation is common amongst patients with SRD5A2 gene defect from the Northern states of India. Also, it records a novel deletion in exon 1 of SRD5A2 gene in a patient with severe hypospadias.

KEY WORDS: SRD5A2 gene; hypospadias; 46,XY DSD; direct repeats; hypomorphic mutation

About the article

Corresponding author: Prof. S.K. Singh,


Published Online: 2010-09-17

Published in Print: 2010-04-01


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 23, Issue 4, Pages 379–385, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem.2010.059.

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