XX-agonadism in a fetus with multiple dysraphic lesions: A new syndrome

American Journal of Medical Genetics

Volumn 70, Issue 4, 1997, Pages 413-414

  Kennerknecht, Ingo ^a,d   Mattfeldt, Torsten ^b   Paulus, Wolfgang ^c   Nitsch, Christian ^c   Negri, Giovanni ^b   Barbi, Gotthold ^a   Just, Walter ^a   Schwemmle, Sabine ^a   Vogel, Walther ^a  

^a Abteilung Medizinische Genetik   (Germany)

^b Bundeswehrkrankenhaus Ulm   (Germany)

^c UNIVERSITY HOSPITAL ULM   (Germany)

^d UNIVERSITY OF ULM   (Germany)

Author keywords

Agonadism; Associated malformations

Indexed keywords

ARTICLE; CASE REPORT; DYSRAPHISM; ENCEPHALOCELE; FETUS; GONADAL AGENESIS; HUMAN; KARYOTYPE 46,XX; OMPHALOCELE; PATHOGENESIS; PRIORITY JOURNAL; SEX CHROMOSOME; SPINA BIFIDA; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; FEMALE; FETUS; GONADAL DYSGENESIS; HUMANS; MALE; PREGNANCY; SEX CHARACTERISTICS; SYNDROME; X CHROMOSOME;

EID: 0030945881     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970627)70:4<413::AID-AJMG15>3.0.CO;2-K     Document Type: Article

References (14)

1. Carey JC, Greenbaum B, Hall BD (1978): The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes BD:OAS XIV (6B): 253-263.
2. Carmi R, Barbash A, Mares AJ (1990): The thoracoabdominal syndrome (TAS): A new X-linked dominant disorder. Am J Med Genet 36:108-114.
3. Kennerknecht I, Sorgo W, Oberhoffer R, Teller MT, Mattfeldt T, Negri G, Vogel W (1993): Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: A new autosomal recessive syndrome. Am J Med Genet 47:1166-1170.
4. Kennerknecht I, von Saurma P, Brenner R, Just W, Barbi G, Sorgo W, Heinze E, Wolf AS, Schneider V, Günther KP, Teller WM, Vogel W (1995): Agonadism in two sisters with gonosomal constitution, mental retardation, short stature, severely retarded bone age, and multiple extragenital malformations: A new autosomal recessive syndrome. Am J Med Genet 59:62-67.
5. Kushnick T, Wiley JE, Palmer SM (1992): Agonadism in a 46,XY patient with CHARGE association. Am J Med Genet 42:96-99.
6. Levinson G, Zarate A, Guzman-Toledano R, Canales ES, Jimenez M (1976): An XX female with sexual infantilism, absent gonads, and lack of Müllerian ducts. J Med Genet 13:68-69.
7. Maaswinkel-Mooij PD, Stokvis-Brantsma WH (1992): Phenotypically normal girl with male pseudohermaphroditism, hypoplastic left ventricle, lung aplasia, horseshoe kidney, and diaphragmatic hernia. Am J Med Genet 42:647-648.
8. Maciel-Guerra AT, Farah SB, Garmes HM, Pinto W Jr, Bustorff da Silva JM, Baptista MT, Marques-de-Faria AP, Guerra G Jr, de Mello MP (1991): True agonadism: Report of a case analyzed with Y-specific DNA probes. Am J Med Genet 41:444-445.
9. Meacham LK, Winn KJ, Culler FL, Parks JS (1991): Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. Am J Med Genet 41:478-481.
10. Medina M, Kofman-Alfaro S, Pérez-Palacios G (1982): 46,XX gonadal absence: A variant of the XX pure gonadal dysgenesis? Acta Endocrinol 99:585-587.
11. Mendonça BB, Barbosa AS, Arnhold IJP, McElreavy K, Fellous M, Moreira-Filho CA (1994): Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene. Am J Med Genet 52:39-53.
12. Opitz JM, Gilbert EF (1982): Editorial comment: CNS anomalies and the midline as a "developmental field." Am J Med Genet 12:443-455.
13. Sarto GE, Opitz JM (1973): The XY gonadal agenesis syndrome. J Med Genet 10:288-293.
14. Sybert VP, Pagon RA, Ramsdell L, Marymee K (1995): Re: True Agonadism: Report of a case analyzed with Y-specific DNA probes. Am J Med Genet 55:113.