Journal of the ASEAN Federation of Endocrine Societies 2016;31(2):151-154

doi:https://doi.org/10.15605/jafes.031.02.11

De La Chapelle Syndrome: A rare case of male infertility.

Rajesh Rajput 1 ; Deepak Jain 1 ; Shaweta Vohra 1 ; Vaibhav Pathak 1

Affiliations

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Keywords

Male Phenotype; 46,xx Chromosomes

Country

Philippines

Language

English

Abstract

A 25-year-old Indian male presented to Endocrine Outpatient Department of PGIMS Rohtak with chief complaints of inability to father a child in spite of 2 years of unprotected sexual intercourse. Patient had a normal male phenotype, however seminal fluid analysis was suggestive of azoospermia. Karyotyping chromosomal analysis showed 46, XX chromosomes. The frequency, etiology and diagnosis of this syndrome are reviewed here.