Skip to main content
Canadian Medical Association Journal logoLink to Canadian Medical Association Journal
. 1984 Jan 15;130(2):121–125.

Inheritance of intersex disorders.

D Muram, J Dewhurst
PMCID: PMC1875911  PMID: 6362812

Abstract

Intersex disorders result from abnormalities of the sex chromosomes, gonads, internal and external genitalia, sex hormones and gender role. This article reviews the literature on intersex disorders, outlining the characteristics and mode of inheritance, if known, of each. For appropriate and effective management and counselling of patients and their families, physicians must have a good knowledge of the development of the genital tract and of the interaction between genetic sex and environmental influences.

Full text

PDF
121

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Armendares S., Salamanca F., Cantú J. M., Del Castillo V., Nava S., Dominguez-de-la-Piedra E., Cortés-Gallegos V., Gallegos A., Cervantes C., Parra A. Familial true hermaphrodism in three siblings: clinical, cytogenetic, histological and hormonal studies. Humangenetik. 1975 Sep 10;29(2):99–109. doi: 10.1007/BF00430346. [DOI] [PubMed] [Google Scholar]
  2. BOWEN P., LEE C. S., MIGEON C. J., KAPLAN N. M., WHALLEY P. J., MCKUSICK V. A., REINFENSTEIN E. C., Jr HEREDITARY MALE PSEUDOHERMAPHRODITISM WITH HYPOGONADISM, HYPOSPADIAS, AND GYNECOMASTIA: REIFENSTEIN'S SYNDROME. Ann Intern Med. 1965 Feb;62:252–270. doi: 10.7326/0003-4819-62-2-252. [DOI] [PubMed] [Google Scholar]
  3. Barr M. L., Carr D. H., Plunkett E. R., Soltan H. C., Wiens R. G. Male pseudohermaphroditism and pure gonadal dysgenesis in sisters. Am J Obstet Gynecol. 1967 Dec 15;99(8):1047–1055. doi: 10.1016/0002-9378(67)90342-0. [DOI] [PubMed] [Google Scholar]
  4. CHILDS B., GRUMBACH M. M., VAN WYK J. J. Virilizing adrenal hyperplasia; a genetic and hormonal study. J Clin Invest. 1956 Feb;35(2):213–222. doi: 10.1172/JCI103266. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Chemke J., Carmichael R., Stewart J. M., Geer R. H., Robinson A. Familial XY gonadal dysgenesis. J Med Genet. 1970 Jun;7(2):105–111. doi: 10.1136/jmg.7.2.105. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Christakos A. C., Simpson J. L., Younger J. B., Christian C. D. Gonadal dysgenesis as an autosomal recessive condition. Am J Obstet Gynecol. 1969 Aug 1;104(7):1027–1030. doi: 10.1016/0002-9378(69)90697-8. [DOI] [PubMed] [Google Scholar]
  7. Couillin P., Boue J., Nicolas H., Cheruy C., Boue A. Prenatal diagnosis of congenital adrenal hyperplasia (21-OH deficiency type) by HLA typing. Prenat Diagn. 1981 Jan;1(1):25–33. doi: 10.1002/pd.1970010107. [DOI] [PubMed] [Google Scholar]
  8. Dewhurst C. J. Primary and secondary amenorrhoea. Clin Obstet Gynaecol. 1974 Dec;1(3):619–647. [PubMed] [Google Scholar]
  9. Dupont B., Oberfield S. E., Smithwick E. M., Lee T. D., Levine L. S. Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet. 1977 Dec 24;2(8052-8053):1309–1312. doi: 10.1016/s0140-6736(77)90362-2. [DOI] [PubMed] [Google Scholar]
  10. Hirschfeld A. J., Fleshman J. K. An unusually high incidence of salt-losing congenital adrenal hyperplasia in the Alaskan Eskimo. J Pediatr. 1969 Sep;75(3):492–494. doi: 10.1016/s0022-3476(69)80280-5. [DOI] [PubMed] [Google Scholar]
  11. Hughes I. A., Laurence K. M. Antenatal diagnosis of congenital adrenal hyperplasia. Lancet. 1979 Jul 7;2(8132):7–9. doi: 10.1016/s0140-6736(79)90174-0. [DOI] [PubMed] [Google Scholar]
  12. Imperato-McGinley J., Guerrero L., Gautier T., Peterson R. E. Steroid 5alpha-reductase deficiency in man: an inherited form of male pseudohermaphroditism. Science. 1974 Dec 27;186(4170):1213–1215. doi: 10.1126/science.186.4170.1213. [DOI] [PubMed] [Google Scholar]
  13. Imperato-McGinley J., Peterson R. E., Gautier T., Sturla E. Androgens and the evolution of male-gender identity among male pseudohermaphrodites with 5alpha-reductase deficiency. N Engl J Med. 1979 May 31;300(22):1233–1237. doi: 10.1056/NEJM197905313002201. [DOI] [PubMed] [Google Scholar]
  14. Jones H. W., Jr, Rary J. M., Rock J. A., Cummings D. The role of the H-Y antigen in human sexual development. Johns Hopkins Med J. 1979 Aug;145(2):33–43. [PubMed] [Google Scholar]
  15. Kasdan R., Nankin H. R., Troen P., Wald N., Pan S., Yanaihara T. Paternal transmission of maleness in XX human beings. N Engl J Med. 1973 Mar 15;288(11):539–545. doi: 10.1056/NEJM197303152881102. [DOI] [PubMed] [Google Scholar]
  16. Levine L. S., Zachmann M., New M. I., Prader A., Pollack M. S., O'Neill G. J., Yang S. Y., Oberfield S. E., Dupont B. Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group. N Engl J Med. 1978 Oct 26;299(17):911–915. doi: 10.1056/NEJM197810262991702. [DOI] [PubMed] [Google Scholar]
  17. MILNER W. A., GARLICK W. B., FINK A. J., STEIN A. A. True hermaphrodite siblings. J Urol. 1958 Jun;79(6):1003–1009. doi: 10.1016/S0022-5347(17)66383-3. [DOI] [PubMed] [Google Scholar]
  18. Meyer W. J., 3rd, Migeon B. R., Migeon C. J. Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity. Proc Natl Acad Sci U S A. 1975 Apr;72(4):1469–1472. doi: 10.1073/pnas.72.4.1469. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Minowada S., Kobayashi K., Isurugi K., Fukutani K., Ikeuchi H., Hasegawa T., Yamada K. Two XX male brothers. Clin Genet. 1979 May;15(5):399–405. doi: 10.1111/j.1399-0004.1979.tb01771.x. [DOI] [PubMed] [Google Scholar]
  20. Mori Y., Mizutani S. [Familial true hermaphroditism in genetic females]. Nihon Hinyokika Gakkai Zasshi. 1968 Oct;59(10):857–864. doi: 10.5980/jpnjurol1928.59.10_857. [DOI] [PubMed] [Google Scholar]
  21. Nicolis G. L., Hsu L. Y., Sabetghadam R., Kardon N. B., Chernay P. R., Mathur D. P., Rose H. G., Hirschhorn K., Gabrilove J. L. Klinefelter's syndrome in identical twins with the 46,XX chromosome constitution. Am J Med. 1972 Apr;52(4):482–491. doi: 10.1016/0002-9343(72)90039-3. [DOI] [PubMed] [Google Scholar]
  22. Ohno S. The role of H-Y antigen in primary sex determination. JAMA. 1978 Jan 16;239(3):217–220. [PubMed] [Google Scholar]
  23. Parks G. A., Dumars K. W., Limbeck G. A., Quinlivan W. L., New M. I. "True agonadism": a misnomer? J Pediatr. 1974 Mar;84(3):375–380. doi: 10.1016/s0022-3476(74)80720-1. [DOI] [PubMed] [Google Scholar]
  24. Qazi Q. H., Thompson M. W. Incidence of salt-losing form of congenital virilizing adrenal hyperplasia. Arch Dis Child. 1972 Apr;47(252):302–304. doi: 10.1136/adc.47.252.302. [DOI] [PMC free article] [PubMed] [Google Scholar]
  25. ROSENBERG H. S., CLAYTON G. W., HSU T. C. Familial true hermaphrodism. J Clin Endocrinol Metab. 1963 Feb;23:203–206. doi: 10.1210/jcem-23-2-203. [DOI] [PubMed] [Google Scholar]
  26. SHAH P. N., NAIK S. N., MAHAJAN D. K., DAVE M. J., PAYMASTER J. C. A new variant of human intersex with discussion on the developmental aspects. Br Med J. 1961 Aug 19;2(5250):474–477. doi: 10.1136/bmj.2.5250.474. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. Saenger P., Goldman A. S., Levine L. S., Korth-Schutz S., Muecke E. C., Katsumata M., Doberne Y., New M. I. Prepubertal diagnosis of steroid 5 alpha-reductase deficiency. J Clin Endocrinol Metab. 1978 Apr;46(4):627–634. doi: 10.1210/jcem-46-4-627. [DOI] [PubMed] [Google Scholar]
  28. Savage M. O., Preece M. A., Jeffcoate S. L., Ransley P. G., Rumsby G., Mansfield M. D., Williams D. I. Familial male pseudohermaphroditism due to deficiency of 5 alpha-reductase. Clin Endocrinol (Oxf) 1980 Apr;12(4):397–406. doi: 10.1111/j.1365-2265.1980.tb02727.x. [DOI] [PubMed] [Google Scholar]
  29. Simpson J. L., Blagowidow N., Martin A. O. XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis. Hum Genet. 1981;58(1):91–97. doi: 10.1007/BF00284155. [DOI] [PubMed] [Google Scholar]
  30. Simpson J. L., Christakos A. C., Horwith M., Silverman F. S. Gonadal dysgenesis in individuals with apparently normal chromosomal complements: tabulation of cases and compilation of genetic data. Birth Defects Orig Artic Ser. 1971 May;7(6):215–228. [PubMed] [Google Scholar]
  31. Sternberg W. H., Barclay D. L., Kloepfer H. W. Familial XY gonadal dysgenesis. N Engl J Med. 1968 Mar 28;278(13):695–700. doi: 10.1056/NEJM196803282781302. [DOI] [PubMed] [Google Scholar]
  32. de la Chapelle A. Analytic review: nature and origin of males with XX sex chromosomes. Am J Hum Genet. 1972 Jan;24(1):71–105. [PMC free article] [PubMed] [Google Scholar]
  33. de la Chapelle A., Koo G. C., Wachtel S. S. Recessive sex-determining genes in human XX male syndrome. Cell. 1978 Nov;15(3):837–842. doi: 10.1016/0092-8674(78)90268-4. [DOI] [PubMed] [Google Scholar]

Articles from Canadian Medical Association Journal are provided here courtesy of Canadian Medical Association

RESOURCES