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.