Skip to main content Accessibility help
  • Print publication year: 2004
  • Online publication date: May 2010

9 - Management of ambiguous genitalia at birth

from Part II - Management of developmental abnormalities of the genital tract


About 1 in every 4000 infants is born with ambiguous genitalia (Hamerton et al., 1975). This event creates tremendous anxiety for the parents. Any health professionals involved in caring for them and the baby at the delivery will be immediately placed under great pressure to sort things out quickly. Under these circumstances, decision making is stressful, particularly for staff who are unprepared and inexperienced, and stress can increase the risk of mistakes. This chapter is intended to provide health professionals with clear guidelines on how best to proceed. The management of ambiguous genitalia at birth involves management of the medical condition in the infant and also management of the distressed parents, who become patients themselves. A team approach is required to provide the range of professional skills needed (medical, surgical, nursing and mental health) and the best team members for this situation are those with very good communication skills as well as clinical acumen.

Genitalia are “ambiguous” when they have an atypical appearance and no one in the room can decide if the baby is male or female. The phallus looks too small to be a penis and too large to be a clitoris. The urethra is malpositioned in relation to the size of the phallus, being usually on the shaft of the phallus or in the perineum. If there is a vagina, it may open into a urogenital sinus, so that there is only a single orifice.

Jong, T P V M, Boemers, M L (1995). Neonatal management of female intersex by clitorovaginoplasty. J Urol 154, 830–832
Diamond, M, Sigmundson, H K (1997). Management of intersexuality. Guidelines for dealing with persons with ambiguous genitalia. Arch Pediatr Adol Med 151, 1046–1050
Gourlay, W A, Johnson, H W, Pantzar, J T M, McGillivray, B, Crawford, R, Nielson, W R (1994). Gonadal tumors in disorders of sexual differentiation. Urology 43, 537–540
Hamerton, J L, Canning, N, Ray, M, Smith, S (1975). A cytogenetic survey of 14 069 newborn infants. I. Incidence of chromosome abnormalities. Clini Genet 8, 223–243
McTaggart, S J, Algar, E, Chow, C W, Powell, H R, Jones, C L (2001). Clinical spectrum of Denys—Drash and Frasier syndrome. Pediatr Nephrol 16, 335–339
Power, D A, Brown, R S D, Brock, C S, Payne, H A, Majeed, A, Babb, P (2001). Trends in testicular carcinoma in England and Wales, 1971–99. Br J Urol Int 87, 361–365
Sultana, R, Myerson, D, Disteche, C M (1995). In situ hybridization analysis of the Y chromosome in gonadoblastoma. Genes Chromosome Cancer 13, 257–262
Ramani, P, Yeung, C K, Habeebu, S S (1993). Testicular intratubular germ cell neoplasia in children and adults with intersex. Am J Surg Pathol 17, 1124–1133
Kamp, H J, Slijper, F M E (1996). The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life. Eur J Pediatr 155, 620–621
Wisniewski, A B, Migeon, C J, Gearhart, J P, Meyer-Bahlburg, H F L, Berkovitz, G D, Rock, J A (2001). Partial androgen insensitivity syndrome (PAIS) and partial gonadal dysgenesis: long-term medical, surgical and psychological outcome of patients reared male or female. Pediatr Res 49 (Part 3), 51A