Mixed gonadal dysgenesis: A syndrome of broad clinical, cytogenetic and histopathologic spectrum

Genetic Counseling

Volumn 10, Issue 3, 1999, Pages 233-243

  Alvarez Nava, Francisco ^b   Gonzalez, S ^c   Soto, M ^c   Pineda, L ^c   Morales Machin, A ^a  

^a UNIVERSIDAD DEL ZULIA   (Venezuela)

^b HOSPITAL UNIVERSITARIO DE MARACAIBO   (Venezuela)

^c NONE

Author keywords

Abnormal sexual development; Mixed gonadal dysgenesis; Sex chromosomes

Indexed keywords

ADOLESCENT; ADULT; AGE; ARTICLE; BIOPSY; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CLINICAL FEATURE; EMBRYONIC STRUCTURES; FEMALE; GENDER; GONADAL DYSGENESIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; KARYOTYPE 45,X; KARYOTYPE 46,XX; KARYOTYPE 46,XY; LAPAROSCOPY; MALE; MUELLERIAN DUCT; PATIENT SELECTION; PRESCHOOL CHILD; SEX CHROMOSOME MOSAICISM; TESTIS DEVELOPMENT; VENEZUELA;

WOLFFIA;

EID: 0032827932     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. BERKOVITZ G.D., FECHNER P.Y., ZACUR H.W., ROCK J.A., SNYDER H.W., MIGEON C.J., PERLMAN E.J.: Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation. Medicine, 1991, 70, 375-383.
2. CANTRELL M.A., BICKNELL J.N., PAGON R.A.: Molecular analysis of 46,XY females and regional assignment of a new Y chromosome specific probe. Hum. Genet., 1989, 83, 88-92.
3. DAVIDOFF F., FEDERMAN D.D.: Mixed gonadal dysgenesis. Pediatrics, 1973, 52, 725-742.
4. DONAHOE P.K., CRAWFORD J.D., HENDREN H.: Mixed gonadal dysgenesis: pathogenesis and management. J. Pediatr. Surg., 1979, 14, 287-300.
5. GANNT P.A., BYRD J.R., GREENBLATT R.D., MCDONOUGH P.G.: A clinical and cytogenetic study of fifteen patients with 45,X/46,XY gonadal dysgenesis. Fertil. Steril., 1980, 34, 216-221.
6. GRUMBACH M.M., CONTE F.A.: Disorders of Sex Differentiation. In: Williams Textbook of Endocrinology. Wilson J.D., Foster D.W. (eds). Philadelphia: Saunders, 1998, 1303-1425.
7. HOULE A.M., TAKETO T.: True hermaphroditism: an experimental model in the mouse. J Urol., 1992, 148, 672-676.
8. KOFMAN-ALFARO S., PÉREZ-PALACIOS G., MEDINA M., ESCOBAR N., GARCÍA M., RUZ L., MUTCHINICK D.: Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype. Hum. Genet., 1981, 58, 373-376.
9. KULKARNI J.N., KAMAT M., BORJES A.: Bilateral synchronous tumors in testes in unrecognized mixed dysgenesis a case report and review of literature. J. Urol., 1990, 143, 362-364.
10. McDONOUGH P.G., THO P.T.: The spectrum of 45,X/46,XY gonadal dysgenesis and its implications, a study of 19 patients. Pediatr. Adolesc. Gynecol., 1983, 1, 1-17.
11. McDONOUGH P.G.: Cytogenetic in Reproductive Endocrinology. In: Reproductive Endocrinology: Physiology, Pathology and Clinical Management. Yen S.S.C., Jaffe R.B. (eds). Philadelphia.: Saunders, 1991, 489-507.
12. MÉNDEZ J.P., ULLOA-AGUIRRE A., KOFMAN-ALFARO S., MUTCHINICK O., FERNÁNDEZ-DEL CASTILLO C., REYES E., PÉREZ-PALACIOS G.: Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients. Am. J. Med. Genet., 1993, 46, 263-267.
13. RAJFER J., WALSH P.S.: Mixed gonadal dysgenesis: dysgenetic male pseudohermaphroditism. Pediatr. Adolesc. Endocrinol., 1981, 8, 105-155.
14. ROBBOY S.J., MILLER T., DONAHOE P.K., JAHRE C., WELCH WR., HASELTINE F.P., MILLER W., ATKINS L., CRAWFORD J.D.: Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis. Hum. Pathol., 1982, 13, 700-716.
15. SOHVAL A.R.: Mixed gonadal dysgenesis: a variety of hermaphroditism. Am. J. Hum. Genet., 1963, 15, 155-158.
16. THO S.P.T., BEHZADIAN A., BYRD J.R., McDONOUGH P.G.: Correlation of the testicular determinant factor sequence zinc finger Y with varying gonadal phenotypes in a series of 13 subjects with gonadal dysgenesis due to Y aneuploidy. Am. J. Obstet. Gynecol., 1990, 163, 1968-1975.
17. Van NIEKERK W.A.: True hermaphroditism: an analytic review with a report of 3 new cases. Am. J. Obstet. Gynecol., 1976, 16, 890.
18. WALLACE T.M., LEVIN H.S.: Mixed gonadal dysgenesis. A review of 15 patients reporting cases of malignant intrabular germ cell neoplasia of the testis, endometrial adenocarcinoma and a complex vascular anomaly. Arch. Pathol. Lab. Med., 1990, 114, 679-688.