Ambiguous genitalia: two decades of experience
Annals of Saudi Medicine. 2011; 31 (3): 284-288
in English
| IMEMR
| ID: emr-122619
ABSTRACT
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. A retrospective study conducted in the pediatric endocrine clinic at a university hospital in Saudi Arabia during the period 1989-2008. Medical records of children with ambiguous genitalia were reviewed and the genitalia described. Of the 81 children with ambiguous genitalia, 53 [65.4%] patients were genetically females [46XY], 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-[beta-hydroxysteroid dehydrogenase deficiency] in 2 [7.14%], 5-alpha-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. 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
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Sex Determination Analysis
/
Disorders of Sex Development
/
Retrospective Studies
/
Hyperpigmentation
/
Adrenal Hyperplasia, Congenital
/
Genitalia, Female
/
Genitalia, Male
Type of study:
Screening study
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
English
Journal:
Ann. Saudi Med.
Year:
2011
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