title: True agonadism: report of a case analyzed with Y-specific DNA probes.
abstract: We report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no gonads were found, and only mesonephric and Müllerian remnants. She was HY positive, and no deletion was detected in the Y chromosome using 5 different probes. Although a genetic defect is not excluded, pregnancy complications suggest an environmental insult to the developing testes.
authors.affiliation: Departmento de Genética Médica, Universidade Estadual de Campinas, SP, Brazil.
authors.forename: A T
authors.initials: AT
authors.lastname: Maciel-Guerra
authors.forename: S B
authors.initials: SB
authors.lastname: Farah
authors.forename: H M
authors.initials: HM
authors.lastname: Garmes
authors.forename: W
authors.initials: W
authors.lastname: Pinto Júnior
authors.forename: J M
authors.initials: JM
authors.lastname: Bustorff da Silva
authors.forename: M T
authors.initials: MT
authors.lastname: Baptista
authors.forename: A P
authors.initials: AP
authors.lastname: Marques-de-Faria
authors.forename: G
authors.initials: G
authors.lastname: Guerra Júnior
authors.forename: M P
authors.initials: MP
authors.lastname: de Mello
mesh_terms: D002675:Child, Preschool; D015342:DNA Probes; D012734:Disorders of Sex Development / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities; D006801:Humans; D008297:Male; D010641:Phenotype; D013737:Testis / Q000002:abnormalities*; D014998:Y Chromosome
chemical_list: D015342:DNA Probes