title: Agonadism in a 46,XY patient with CHARGE association.
abstract: We report on an infant girl born with findings of CHARGE association who proved to be a genetic male (46,XY) on cytogenetic study. Further investigation of the genitalia demonstrated partially female internal organs but absence of gonads by ultrasonography, hormone studies, and absence of ZFY by DNA probe of Yp. Pelvic exploration confirmed lack of gonadal tissue and uterus. Facial phenotype was compatible with CHARGE appearance.
authors.affiliation: Department of Pediatrics, East Carolina University School of Medicine, Greenville, North Carolina 27858-4354.
authors.forename: T
authors.initials: T
authors.lastname: Kushnick
authors.forename: J E
authors.initials: JE
authors.lastname: Wiley
authors.forename: S M
authors.initials: SM
authors.lastname: Palmer
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia / Q000235:genetics; D015342:DNA Probes; D004431:Ear, External / Q000002:abnormalities; D004677:Encephalocele / Q000235:genetics; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006130:Growth Disorders / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D010641:Phenotype
chemical_list: D015342:DNA Probes