Female pseudohermaphroditism with complete masculinisation of the external genitalia in two siblings. A new entity?
Complete masculinisation of the external genitalia (type V of Prader classification) is reported in two siblings with normal internal female genitalia, normal ovaries and a 46,XX chromosome constitution in different cell lines without any detectable source of exposure to androgen during pregnancy.
D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology; D005260:Female; D005835:Genitalia / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn