Kennerknecht I, Mattfeldt T, Paulus W, Nitsch C, Negri G, Barbi G, Just W, Schwemmle S, Vogel W
Abteilung Medizinische Genetik, Ulm, Germany.
Am J Med Genet. 1997 Jun 27;70(4):413-4.
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.
