title: XX-agonadism in a fetus with multiple dysraphic lesions: a new syndrome.
abstract: We report on a 19-week-old fetus with a 46,XX karyotype, normal female external genitalia, complete gonadal agenesis, large encephalocele, spina bifida, and omphalocele. We postulate a new syndrome. Hitherto no consistent malformation patterns have been observed in agonadism patients. True agonadism, including even the unusual finding of an XX gonosomal status, is obviously not as rare as suggested.
authors.affiliation: Abteilung Medizinische Genetik, Ulm, Germany.
authors.forename: I
authors.initials: I
authors.lastname: Kennerknecht
authors.forename: T
authors.initials: T
authors.lastname: Mattfeldt
authors.forename: W
authors.initials: W
authors.lastname: Paulus
authors.forename: C
authors.initials: C
authors.lastname: Nitsch
authors.forename: G
authors.initials: G
authors.lastname: Negri
authors.forename: G
authors.initials: G
authors.lastname: Barbi
authors.forename: W
authors.initials: W
authors.lastname: Just
authors.forename: S
authors.initials: S
authors.lastname: Schwemmle
authors.forename: W
authors.initials: W
authors.lastname: Vogel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006059:Gonadal Dysgenesis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D011247:Pregnancy; D012727:Sex Characteristics; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics / Q000473:pathology