Primary hypogonadism and partial alopecia in three sibs with müllerian hypoplasia in the affected females.
We describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.
D000293:Adolescent; D000328:Adult; D000505:Alopecia / Q000150:complications / Q000235:genetics*; D005187:Fallopian Tubes / Q000002:abnormalities; D005260:Female; D005854:Germ Cells / Q000473:pathology; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics*; D008297:Male; D010053:Ovary / Q000002:abnormalities; D010375:Pedigree; D014599:Uterus / Q000002:abnormalities