Chromosome studies in ovarian hypoplasia.
Six phenotypic female patients characterized by an average stature, infantile body constitution, underdeveloped external and internal reproductive organs and secondary sex characteristics and amenorrhoea are described. In each of them laparotomy and histological study disclosed ovarian hypoplasia. The karyotype was 46,XX in all patients except one. However, the metaphase analysis extending over a greater than usual number of cells revealed an autosomal ring (15) in 5 to 26% of cells. The patients also showed phenotype signs of D chromosome anomalies. The authors agree with the previously suggested autosomal gene effect in sex differentiation.
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D001824:Body Constitution; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007621:Karyotyping; D010053:Ovary / Q000002:abnormalities*; D010641:Phenotype; D012727:Sex Characteristics