De La Chapelle Syndrome: A Rare Case of Male Infertility

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.

Keywords

• male phenotype
• 46
• XX chromosomes
• azoospermia