Abstract
This chapter reviews the concepts underlying the initial evaluation and management of the intersex child by the endocrinologist. By definition, such a child has lack of concordance of various aspects of gender. These include chromosomal sex (46XX, 46XY or other), gonadal/reproductive sex (ovaries, Fallopean tubes and uterus vs. testes, seminal vesicles, prostate gland and ejaculatory ducts), genital sex (vagina and clitoris vs. penis and scrotum), and gender-specific behavior. Depending on chromosomal sex, most patients may be classified as incompletely masculinized males (46 XY, male pseudohermaphrodites or males with micropenis), excessively virilized females (46XX, female pseudohermaphrodites), and patients with abnormalities of sex chromosomes such as those with mixed gonadal dysgenesis. A large number of conditions may be associated with intersex states (Table1).
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References
Barthold JS, Gonzalez R. Intersex states, in:Pediatric Urology PracticeET Gonzales, SB Bauer, eds., Lippincott Williams & Wilkins, Philadelphia, pp. 547–578, 1999.
Berenbaum SA. Effects of early androgens on sex-typed activities and interests in adolescents with congenital adrenal hyperplasia.Harm Behav35(1):102–110, 1999.
Bosinski HA, Peter M, Bonatz G, Arndt R, Heidenreich M, Sippell WG, Wille R. A higher rate of hyperandrogenic disorders in female-to-male transsexuals.Psychoneuroendocrinology22(5):361–380, 1997.
Diamond M. Pediatric management of ambiguous and traumatized genitalia..1 Urol162(3 Pt 2):l021–1028, 1999.
Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S. Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase.Nat Genet7:34–39, 1994.
Grumbach MM, Conte FA. Disorders of sex differentiation, in:Williams Textbook of Endocrinology 9’ h Edition .JD Wilson, DW Foster, HM Kronenberg, PR Larsen, eds., W.B. Saunders, Philadelphia, pp. 1303–1426,1998.
Lee MM, Donahoe PK. Mullerian inhibiting substance: a gonadal hormone with multiple functions.Endocr Rev14(2):152–164, 1993.
Meyer-Bahlburg HF, Gruen RS, New MI, Bell JJ, Morishima A, Shimshi M, Bueno Y, Varga I, Baker SW. Gender change from female to male in classical congenital adrenal hyperplasia.Horm Behav30:319–332, 1996.
Meyer-Bahlburg HF. Gender assignment and reassignment in 46, XY pseudohermaproditism and related conditions.J Clin Endocrinol Metab84:3455–3458, 1999.
Meyer-Bahlburg HF. What causes low rates of child-bearing in congenital adrenal hyperplasia?J Clin Endocrinol Metab84(6):1844–1847, 1999.
Parker KL, Schedl A, Schimmer BP. Gene interactions in gonadal development.Anna Rev Physiol61:417–433, 1999.
Powell DM, Newman KD, Randolph J. A proposed classification of vaginal anomalies and their surgical correction.J Pediatr Surg30(2):271–275,1995.
Prader A. Der genitalbefund beim ppseudohermaphroditismus femininus der kengenitalen adrenogenitalen syndroms.HeIv Paediatr Acta9:231–248, 1954.
Premawardhana LD, Hughes IA, Read GF, Scanlon MF. Longer term outcome in females with congenital adrenal hyperplasia (CAH): the Cardiff experience.Clin Endocrinol (Ox)46:327–332, 1997.
Quigley CA, De Bellis A, Marschke KB, el-Awady MK, Wilson EM, French FS. Androgen receptor defects: historical, clinical, and molecular perspectives.Endocr Rev16(3):271–321, 1995.
Rheaume E, Simard J, Morel Y, Mebarki F, Zachmann M, Forest MG, New M1, Labrie F. Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene.Nat Genet1:239–245, 1992.
Stocco DM, Clark BJ. Regulation of the acute production of steroids in steroidogenic cells.Endocr Rev17(3):221–244, 1996.
Vainio S, Heikkila M, Kispert A, Chin N, McMahon AP. Female development in mammals is regulated by Writ-4 signalling.Nature397(6718):405–409, 1999.
White PC, Speiser PW. Congenital adrenal hyperplasia duc to 21-hydroxylase deficiency.Endocr Rev21(3):245–291, 2000.
Wilson BE, Reiner WG. Management of intersex: a shifting paradigm.J Clin Ethics9(4):360–370, 1998. Wilson JD, Griffin JE, Russell DW. Steroid 5 alpha-reductase 2 deficiency.Endocr Rev14(5):577–593, 1993.
Wilson JD. The role of androgens in male gender role behavior.Endocr Rev20:726–737, 1999.
Yanase T, Simpson ER, Waterman MR. 17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition.Endocr Rev12:91–108, 1991.
Zucker KJ, Bradley SJ, Oliver G, Blake J, Fleming S, Hood J. Psychosexual development of women with congenital adrenal hyperplasia.Horm Behav30(4):300–318, 1996.
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White, P.C. (2002). The Endocrinologist’s Approach to the Intersex Patient. In: Zderic, S.A., Canning, D.A., Carr, M.C., Snyder, H.M. (eds) Pediatric Gender Assignment. Advances in Experimental Medicine and Biology, vol 511. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-0621-8_7
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DOI: https://doi.org/10.1007/978-1-4615-0621-8_7
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