Three siblings with premature gonadal failure.
Of a brother and two sisters with infertility, one female sibling was found to be mosaic for Turner's syndrome. The brother and the other sister, of average intelligence, were phenotypically normal, with no dysmorphic features or ambiguous genitalia, but both showed hypergonadotropic hypogonadism. It is suggested that the basic defect in these two siblings is the same and is of genetic origin. As the parents were consanguineous, the defect is most likely due to an autosomal recessive gene.
D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007247:Infertility, Female / Q000235:genetics*; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D014424:Turner Syndrome / Q000235:genetics