title: Incomplete testicular feminization syndrome. A case occurring in a family with frequent hypospadias.
abstract: The case of a 16-year-old patient with incomplete testicular feminization syndrome is reported. The patient had phenotypically female genitalia except for clitoromegaly. Hormonal examinations revealed low plasma testosterone levels but a normal concentration of 5 alpha-dihydrotestosterone, and radiological and surgical examinations revealed no development of Müllerian structures including the uterus and the adnexa. This happened in a family with a frequent occurrence of both hypospadias and cryptorchism.
authors.affiliation: Department of Urology, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Yamashita
authors.forename: K
authors.initials: K
authors.lastname: Kimiya
authors.forename: T
authors.initials: T
authors.lastname: Ueda
authors.forename: J
authors.initials: J
authors.lastname: Kumazawa
mesh_terms: D000293:Adolescent; D012734:Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics; D005190:Family; D005260:Female; D006801:Humans; D010375:Pedigree