Gonadal (ovarian) dysgenesis in 46,XX individuals: Frequency of the autosomal recessive form

American Journal of Medical Genetics

Volumn 63, Issue 4, 1996, Pages 518-524

  Meyers, Carole M ^a   Boughman, Joann A ^a   Rivas, Marian ^b   Wilroy, R Sidney ^b   Simpson, Joe Leigh ^c  

^a UNIVERSITY OF MARYLAND   (United States)

^b UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

autosomal recessive; segregation analysis; XX gonadal (ovarian) dysgenesis

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; FEMALE; GENETIC ANALYSIS; GENETIC RISK; GONADAL DYSGENESIS; HUMAN; KARYOTYPE 46,XX; PRIORITY JOURNAL; SEGREGATION ANALYSIS;

FEMALE; GENES, RECESSIVE; GONADAL DYSGENESIS; HUMANS; MALE; MODELS, GENETIC; PEDIGREE; TURNER SYNDROME;

EID: 0029946572     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<518::AID-AJMG2>3.0.CO;2-K     Document Type: Article

References (32)

1. Aittomäki K (1994): The genetics of XX gonadal dysgenesis. Am J Hum Genet 54:844-851.
2. Aleem FA (1981): Familial 46,XX gonadal dysgenesis. Fertil Steril 35:317-320.
3. Aubert L (1964): Syndrome de Turner avec test de Barr positif et sexe génétique féminin normal. Société D'Endocrinologie 23:225-231.
4. Boczkowski K (1970): Pure gonadal dysgenesis and ovarian dysplasia in sisters. Am J Obstet Gynecol 106:626-628.
5. Chasnoff IJ (1985): Fetal alcohol syndrome in twin pregnancy. Acta Genet Med Gemellol 34:229-232.
6. Giusti G, Borghi A, Salti M, Bigozzi U (1966): Disgenesia gonadica pura con cariotipo 44A+XX in sorelle figlie di cugini. Acta Genet Med Gemellol 15:51-68.
7. Granat M, Amar A, Mor-Yosef S, Brautbar C, Schenker J (1983): Familial gonadal germinative failure: Endocrine and human leukocyte antigen studies. Fertil Steril 40:215-219.
8. Hamet P, Kuchel O, Nowaczynski W, Rojo-Ortega JM, Sasaki C, Genest J (1973): Hypertension with adrenal, genital, renal defects, and deafness. Arch Intern Med 131:563-569.
9. Landau B, Ber A, Eckerling B, Adler S (1969): Rare gonadal dysgenesis with an XX chromosomal pattern in streak gonads. Ann of Int Med 70:421-423.
10. Laroche CL, Aubert L, Detolle P, Patte PA (1964): Les agénésies ovariennes isolées avec taille normale. Ann Endocrinologie 25:1-12.
11. Lundberg PO (1976): Hereditary myopathy, oligoophrenia, cataract, skeletal abnormalities and hypergonadotropic hypogonadism: A new syndrome. Eur Neurol 10:261-280.
12. Magenis RE, Allen LJ, Brown MG, Dougherty TM, Black M, Hafits-Borchardt V, Toth-Fejel S, Lawce H, Smith L (1990): 9p monosomy associated with XY gonadal dysgenesis: A contiguous gene syndrome? Am J Hum Genet 47:A33.
13. Málková J, Chrz R, Motlik K, Stárka L, Kobilková J, Šilinková-Málková E (1974): 46,XX gonadal dysgenesis and ovarian hypoplasia. Humangenetik 23:205-211.
14. Maximilian C, Ionescu B, Bucur A (1970): Deux soeurs avec dysgénésie gonadique majeure, hypotrophic staturale, microcéphalie, arachnodactylie et caryotype 46,XX. J Genet Hum 18:365-378.
15. McCarthy DJ, Opitz JM (1985): Perrault syndrome in sisters. Am J Med Genet 22:629-631.
16. McDonough P, Tho P, Byrd J (1977): Twins discordant for 46,XX gonadal dysgenesis. Fertil Steril 28:251-252.
17. Morton NE (1959): Genetic tests under incomplete ascertainment. Am J Hum Genet 11:1-16.
18. Moszkowski E, DeLuca L, Taubert H (1965): Pure gonadal dysgenesis. Obstet Gynecol 25:329-333.
19. Nazareth H, Farah L, Cunha A, Vieira F (1977): Pure gonadal dysgenesis (Type XX). Hum Genet 37:117-120.
20. Nishi Y, Hamamoto K, Kajiyama M, Kawamura I (1988): The Perrault syndrome: clinical report and review. Am J Med Genet 31:623-629.
21. Pallister P, Opitz J (1979): The Perrault Syndrome: Autosomal recessive ovarian dysgenesis with facultative, non-sex-limited sensorineural deafness. Am J Med Genet 4:239-246.
22. Phelan MC, Pellock JM, Nance WE (1982): Discordant expression of fetal hydantoin syndrome in heteropaternal dizygotic twins. N Engl J Med 307:99-101.
23. Purandare V, Sathe A (1979): Gonadal dysgenesis variants in sisters: A hitherto undescribed combination. Int J Gynaecol Obstet 16: 416-418.
24. Sills I, Rapaport R, Skuza K, Horlick M (1992): 46,XX pure gonadal dysgenesis with growth hormone deficiency and impaired 3β-hydroxysteroid dehydrogenase activity. Am J Med Genet 42:100-103.
25. Simpson JL, Christakos A, Horwith M, Silverman F (1971): Gonadal dysgenesis in individuals with apparently normal chromosomal complements: Tabulation of cases and compilation of genetic data. Baltimore: Willimas and Wilkins for The National Foundation-March of Dimes, BD:OAS VII(6):215-228.
26. Simpson JL (1979): Gonadal dysgenesis and sex chromosomal abnormalities. In Vallet HL, Porter IH (eds): "Genetic Mechanisms of Sexual Development." New York: Academic Press, pp 365-405.
27. Skre H, Bassoe HH, Berg K, Frovig AG (1976): Cerebellar ataxia and hypergonadism in the two kindreds: Chance occurrence, pleiotropism or linkage? Clin Genet 9:234-244.
28. Slotnick E (1971): Familial pure gonadal dysgenesis with clitoral hypertrophy and a normal female karyotype. J Am Osteop Assoc 70: 1167-1177.
29. Verp MS (1983): Environmental causes of ovarian failure. Semin Reprod Endocrinol 1:101-111.
30. Vesely D, Bower R, Kohler P, Char F (1980): Familial ovarian dysgenesis in 46,XX females. Am J Med Sc 280:157-165.
31. Wang LN, Wang YF, Horne CC, Shiao LC (1990): Congenital rubella infection: escape of one monozygotic twin with twin amnions, one chorion and single placenta. Taiwan I Hsueh Hui Tsa Chih (Taiwan) 89:30-33.
32. Youlton R, Michelsen H, Be C, Cruz-Coke R (1982): Pure XX gonadal dysgenesis in identical twins. Clin Genet 21:262-265.