Ambiguous genitalia: two decades of experience

Ann Saudi Med. 2011 May-Jun;31(3):284-8. doi: 10.4103/0256-4947.81544.


Background and objectives: Ambiguous genitalia is a complex, medical and social emergency. The aim of this study is to present our experience over two decades, focusing on the pattern and clinical presentation.

Design and setting: A retrospective study conducted in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008.

Patients and methods: Medical records of children with ambiguous genitalia were reviewed and the genitalia described.

Results: Of the 81 children with ambiguous genitalia, 53 (65.4%) patients were genetically females (46XX), with congenital adrenal hyperplasia being the common cause in 51 (96.5%) patients. Hyperpigmentation, variable degrees of salt wasting and a family history of a similar problem helped in diagnosis. Male genetic sex (46XY) was present in only 28 (34.6%) patients with a diversity of causes; multiple congenital anomalies in 9 (32.1%), local anorectal anomalies in 2 (7.1%), congenital adrenal hyperplasia (3-β-hydroxysteroid dehydrogenase deficiency) in 2 (7.14%), 5-α-reductase deficiency in 4 (14.28%), partial androgen insensitivity in 3 (10.7%), complete androgen insensitivity in 4 (14.28%), and hypogonadotrophin deficiency in 4 (14.3%).Twenty-five (47.2%) of females were wrongly assigned as males, where only two (7.1%) males were wrongly assigned as females.

Conclusion: Ambiguous genitalia, currently termed disorders of sex development (DSD), is not uncommon in our community. Increased awareness, a detailed history, and a careful physical examination, coupled with appropriate laboratory and radiological investigations aid in early diagnosis and avoid serious sequelae.

MeSH terms

  • Adrenal Hyperplasia, Congenital / complications
  • Child
  • Child, Preschool
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / epidemiology
  • Disorders of Sex Development / pathology*
  • Female
  • Genitalia, Female / abnormalities*
  • Genitalia, Male / abnormalities*
  • Hospitals, University
  • Humans
  • Hyperpigmentation / etiology
  • Infant
  • Infant, Newborn
  • Male
  • Retrospective Studies
  • Saudi Arabia / epidemiology
  • Sex Determination Analysis*