Incomplete testicular feminization with multiple congenital abnormalities.
A female infant presented with absent vagina and uterus, absent left kidney, absent right gonad, growth failure, mental retardation, seizure disorder, and facial, limb, and hand anomalies. The chromosome karyotype was 46, XY in her blood and cultured cells, including cells from the sites of both gonads. Her H-Y antigen was positive. Specific dihydrotestosterone binding was reduced in cells from a labial skin biopsy. The case might be due to a minute deletion of the short arm of the X chromosome, resulting in loss of a gene for androgen receptors and of adjacent chromosomal material responsible for the growth failure and the somatic and neurologic anomalies.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D011247:Pregnancy; D012640:Seizures / Q000150:complications / Q000235:genetics