A clinico‐genetic investigation of Leydig cell hypoplasia

Abstract

We report on a kindred including a patient (46,XY) with typical manifestations of Leydig cell hypoplasia who was born to parents who were first cousins. A sister had secondary amenorrhea possibly due to primary ovarian dysfunction. Analysis of six pedigrees fits to a male-limited autosomal recessive pattern of inheritance; its implication for the mutational dynamics in the populations is evaluated.