title: Ambiguous genitalia in neonates: a 4-year prospective study in a localized area.
abstract: This study aimed to determine the possible etiology ot ambiguous genitalia in 41 newborn intants 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 natients. Positive family history of ambiguous genitalia was noted in 4 patients.
authors.affiliation: Department of Paediatrics, Maternity and Children Hospital, Hofuf, Saudi Arabia.
authors.forename: A N
authors.initials: AN
authors.lastname: Al-Mulhim
authors.forename: H M
authors.initials: HM
authors.lastname: Kamal
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D015984:Causality; D012734:Disorders of Sex Development / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics; D052159:Frasier Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D005835:Genitalia / Q000002:abnormalities*; D006053:Goldenhar Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D006786:Hospitals, Urban; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D010375:Pedigree; D011446:Prospective Studies; D012017:Referral and Consultation; D012529:Saudi Arabia / Q000453:epidemiology; D014314:Trisomy / Q000473:pathology; D014424:Turner Syndrome / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D014505:Urban Population / Q000706:statistics & numerical data