• Nasir A M Al-Jurayyan.
• Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia. njurayyan@ksu.edu.sa
• Ann Saudi Med. 2011 May 1; 31 (3): 284288284-8.

Background And ObjectivesAmbiguous 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 SettingA retrospective study conducted in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008.Patients And MethodsMedical records of children with ambiguous genitalia were reviewed and the genitalia described.ResultsOf 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.ConclusionAmbiguous 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.

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