A clinico-genetic investigation of Leydig cell hypoplasia.
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.
D000311:Adrenal Glands / Q000503:physiopathology; D000328:Adult; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D007985:Leydig Cells / Q000473:pathology*; D008297:Male; D010375:Pedigree; D013737:Testis / Q000503:physiopathology