Complete androgen insensitivity syndrome: Clinical and anatomopathological findings in 23 patients

Genetic Counseling

Volumn 8, Issue 1, 1997, Pages 7-12

  Alvarez Nava, F ^a   Gonzalez, S ^a   Soto, M ^a   Martinez, C ^a   Prieto, M ^a  

^a UNIVERSIDAD DEL ZULIA   (Venezuela)

Author keywords

Androgen receptor; Male pseudohermaphroditism; Primary amenorrhea; Testicular feminization; Testicular tissue

Indexed keywords

ANDROGEN INSENSITIVITY SYNDROME; ARTICLE; CLINICAL FEATURE; FAMILY HISTORY; FEMALE GENITAL SYSTEM; GENITAL MALFORMATION; HISTOPATHOLOGY; HUMAN; INGUINAL HERNIA; KARYOTYPE 46,XY; MALE; PHENOTYPE; PRIMARY AMENORRHEA;

ADOLESCENT; CHILD, PRESCHOOL; CRYPTORCHIDISM; FEMALE; HUMANS; INFANT; KARYOTYPING; MALE; POINT MUTATION; PSEUDOHERMAPHRODITISM; RECEPTORS, ANDROGEN; TESTOSTERONE;

EID: 0030905021     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. BROWN C.J., GOSS SS., LUBAHN D.B., JOSEPH D.R., WILSON E.M., FRENCH F.S. and WILLARD H.F.: Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am. J. Hum. Genet., 1989, 44, 264-269,
2. DEWHURST C.J.: The XY female. Am. J. Obstet Gynecol., 1971, 109, 675-688.
3. FAIMAN C. and WINTER J.S.D.: The control of gonadotropin secretion in complete testicular feminization. J. Clin. Endocrinol. Metab., 1974, 59, 631-638.
4. FERENCZY A. and RICH ART R.: The fine structure of the gonads in the complete form of testicular feminization syndrome. Am. J. Obstet Gynecol., 1972, 113, 399-401.
5. GERMAN J., SIMPSON J.L., MORILLOCUCCI G., PASSARGE E. and DE MAYO A.P.: Testicular feminization and inguinal hernia. Lancet, 1973, 1, 891.
6. GRIFFIN J.E., McPHAUL M.J., RUSELL D.W. and WILSON J.D.: The androgen resistance syndromes: steroid 5a-reductase 2 deficiency testicular feminization and related disorders. In: The Metabolic and Molecular Bases of Inherited Disease, 7 th. Scriver C.R., Beaudet A.A.L., Sly W.S., Valle D., (eds.) McGraw-Hill, New York, 1995, 2967-2998.
7. HIORT O., HUANG Q., SINNECKER G., SADEGHI-NEJAD A., KRUSE K., WOLFE H. and YANDELL D.W.: Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling and therapy. J. Clin. Endocrinol. Metab., 1993, 77, 262-266.
8. HURT W.G., BODURTHA J.N., McCALL J B. and ALI M.M.: Seminoma in pubertal patient with androgen insensitivity syndrome. Am. J. Obstet. Gynecol., 1989, 161, 530-533.
9. JAGIELLO G. and ATWELL J.D.: Prevalence of testicular feminization. Lancet. 1962, 1. 329.
10. JUSTRABO E., CABANNE F., MICHIELS R., BASTIEN H., DUSSERRE P., PANSIOT F. and CAYOT F.: A complete form of testicular feminization syndrome: A light and electron microscopy study. J. Pathol., 1978, 126, 165-171.
11. LUKUSA T., FRYNS J.P., KLECZKOWSKA A. and VAN DEN BERGHE H.: Role of gonadal dysgenesis in gonadoblastoma induction in 46,XY individuals. Genet. Counsel., 1991, 2, 9-16.
12. MacDONALD P.C., MADDEN J.D., BRENNER P.F., WILSON J.D. and SIITERI P.K.: Origin of estrogen in normal men and in women with testicular feminization. J. Clin. Endocrinol. Metab., 1979, 49, 905-916.
13. MANUEL M., KATAYAMA K.P. and JONES H.W.: The age of ocurrence of gonadal tumors in intersex patients with a Y chromosome. Am. J. Obstet. Gynecol, 1976, 124, 293-300.
14. MORRIS J.M. and MAHESH V.B.: Further observations on the syndrome « testicular feminization ». Am. J. Obstet. Gynecol., 1963, 87, 731-748.
15. MULLER J.: Morphometry and histology of gonads from twelve children and adolescents with the androgen insensitivity (testicular feminization) syndrome. J. Clin. Endocrinol. Metab., 1984, 59, 785-789.
16. NAGEL R.A., LIPPE B.M. and GRIFFIN J.E.: Androgen resistance in the neonate: use of hormones of hypothalamic-pituitary-gonadal axis for diagnosis. J. Pediatr, 1986, 109, 486-488.
17. PERGAMENT E., HEIMLER A. and SHAH P.: Testicular feminization and inguinal hernia. Lancet, 1973, 2, 740.
18. PINSKY L. and KAUFMAN M.: Genetics of steroid receptors and their disorders. Adv. Hum. Genet., 1987, 16, 299-414.
19. ROSS G.T.: Disorders of the ovary and female reproductive tract. In: Williams Textbook of Endocrinology. Wilson J.D., Foster D.W., (eds). Saunders, Philadelphia, 1985, 206-232.
20. TREMBLAY R.R., FOLEY T.P., CORVOL P., PARK I.J., KOWARSKI A., BLIZZARD R.M., JONES H.W. and MIGEON C.J.: Plasma concentration of testosterone, dihydrotestosterone, testosterone-oestradiol-binding-globulin and pituitary gonadotropins in the syndrome of male pseudo-hermapbroditism with testicular feminization. Acta Endocrinol., 1972, 70, 331-341.
21. VERP M.S. and SIMPSON J.L.: Abnormal sexual differentiation and neoplasia. Cancer Genet., Cytogenet., 1987, 25, 191-218.