Epidemiology of ambiguous genitalia in South America

✍ Scribed by Castilla, Eduardo E. ;Orioli, lêda M. ;Lugarinho, Regina ;Dutra, Graca ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1987
• Tongue: English
• Weight: 378 KB
• Volume: 27
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320270212

✦ Synopsis

We present descriptive epidemiologic data on ambiguous genitalia (AG), obtained in the period 1967-1982 by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) through 70 participating hospitals located in 34 cities of 9 South American countries. The observed prevalence rate for isolated AG was about 1/20,000 births, with at least ?h and probably as much as % due to congenital adrenal hyperplasia. When AG cases associated with other congenital anomalies were also considered, the overall frequency of AG was 1/6,900 total births (1/1O,OOO for live and 1/350 for stillbirths). The prevalence rates were homogeneously distributed among the different countries, and there was a stable secular trend. AG was more frequent in nontropical than in tropical areas of South America, and there was a significant seasonal variation with its acrophase in August (winter). A case-control analysis of 14 risk factors showed an association of AG with a prenatal history of acute maternal illnesses. These data do not support an etiological relationship between AG and hypospadias.