Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.

Al-Mulhim, A. N.; Kamal, H. M.

This study aimed to determine the possible etiology of ambiguous genitalia in 41 newborn infants at a referral hospital in Hofuf city, Saudi Arabia. In 46,XX karyotype patients (n = 14), congenital adrenal hyperplasia and general malformation disorder were the most common causes of genital ambiguity, while in 46,XY karyotype patients (n = 18), testosterone pathway biosynthetic defect was the most common cause even in conjunction with a generalized malformation disorder. In patients with abnormal karyotype (n = 3), 1 had trisomy 18 (47,XX) and died after 3 months and 2 had different types of mosaic Turner syndrome. The karyotype was undetermined in 6 patients. Positive family history of ambiguous genitalia was noted in 4 patients.

SAUDI Arabia; GENITAL abnormalities; ETIOLOGY of diseases; ADRENOGENITAL syndrome; PHYSIOLOGICAL effects of testosterone; KARYOTYPES; TURNER'S syndrome; TRISOMY

Eastern Mediterranean Health Journal, 2010, Vol 16, Issue 2, p214

1020-3397

Academic Journal

10.26719/2010.16.2.214