Phenotype, genotype and gender identity in a large cohort of patients from India with 5α‐reductase 2 deficiency

I. Shabir; M. L. Khurana; A. A. Joseph; M. Eunice; M. Mehta; A. C. Ammini

doi:10.1111/andr.12108

journal article Oct 09, 2015

Phenotype, genotype and gender identity in a large cohort of patients from India with 5α‐reductase 2 deficiency

I. Shabir M. L. Khurana A. A. Joseph M. Eunice M. Mehta A. C. Ammini

Andrology Vol. 3 No. 6 pp. 1132-1139 · Wiley

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Abstract

SummaryDeficiency of the 5α‐reductase 2 enzyme impairs the conversion of testosterone to dihydrotestosterone (DHT) and differentiation of external genitalia, seminal vesicles and prostate in males. The present study describes the phenotype, genotype and gender identity in a large cohort of patients with 5αRD2. All patients underwent detailed clinical evaluation, hormonal profile, karyotyping and molecular analysis of theSRD5A2gene. The molecular analysis of theSRD5A2gene showed the presence of mutant alleles in 24 patients. We found 6 novel mutations IVS(1‐2) T>C, p.A52T, 188‐189insTA, 904‐905ins A, p.A12T and p.E57X in our patients. All patients had ambiguous genitalia and the degrees of under‐virilization ranged from penoscrotal hypospadias and microphallus to clitoromegaly. The position of gonads was variable in patients with same mutation. All the patients with mutations in theSRD5A2gene had male gender identity. Those reared as female had gender dysphoria and underwent gender reassignment. Though a specific genotype–phenotype correlation could not be established in our patient but confirming the diagnosis of 5αRD2 with assessment of theSRD5A2gene may help in appropriate gender assignment.

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Details

Published: Oct 09, 2015
Vol/Issue: 3(6)
Pages: 1132-1139
License: View

Authors

I

I. Shabir

Department of Endocrinology & Metabolism All India Institute of Medical Sciences New Delhi India

M

M. L. Khurana

Department of Endocrinology & Metabolism All India Institute of Medical Sciences New Delhi India

A

A. A. Joseph

Department of Psychiatry All India Institute of Medical Sciences New Delhi India

M

M. Eunice

Department of Endocrinology & Metabolism All India Institute of Medical Sciences New Delhi India

M

M. Mehta

Department of Psychiatry All India Institute of Medical Sciences New Delhi India

A

A. C. Ammini

Department of Endocrinology & Metabolism All India Institute of Medical Sciences New Delhi India

Funding

Department of Science and Technology for the fellowship Award: IF10520

Cite This Article

I. Shabir, M. L. Khurana, A. A. Joseph, et al. (2015). Phenotype, genotype and gender identity in a large cohort of patients from India with 5α‐reductase 2 deficiency. Andrology, 3(6), 1132-1139. https://doi.org/10.1111/andr.12108

Phenotype, genotype and gender identity in a large cohort of patients from India with 5α‐reductase 2 deficiency

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