Anosmia and hypogonadism with ovarian mosaicism.
An 18-year-old woman with anosmia and hypogonadotropic hypogonadism is presented. In addition endocrinologic evaluation revealed an apparent deficiency in pituitary growth hormone secretion in response to hypoglycemia and an ovarian insensitivity to exogenous gonadotropins. The ovaries, which on histologic examination appeared to be normal, upon karyotyping showed a chromosomal mosaicism, probably 46, XX/47, XXF+.
D000293:Adolescent; D001706:Biopsy; D003117:Color Vision Defects / Q000150:complications; D005058:Eunuchism / Q000235:genetics*; D005260:Female; D013006:Growth Hormone / Q000097:blood; D006801:Humans; D007003:Hypoglycemia / Q000139:chemically induced; D007006:Hypogonadism / Q000150:complications / Q000235:genetics* / Q000473:pathology; D007328:Insulin; D008607:Intellectual Disability / Q000150:complications; D007621:Karyotyping; D009030:Mosaicism; D000857:Olfaction Disorders / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010053:Ovary / Q000473:pathology; D013577:Syndrome
D007328:Insulin; D013006:Growth Hormone