RESUMO
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.
Assuntos
Transtornos do Desenvolvimento Sexual/epidemiologia , Genitália/anormalidades , Anormalidades Múltiplas/epidemiologia , Anormalidades Múltiplas/genética , Hiperplasia Suprarrenal Congênita/complicações , Hiperplasia Suprarrenal Congênita/epidemiologia , Hiperplasia Suprarrenal Congênita/genética , Causalidade , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Síndrome de Frasier/complicações , Síndrome de Frasier/epidemiologia , Síndrome de Frasier/genética , Síndrome de Goldenhar/complicações , Síndrome de Goldenhar/epidemiologia , Síndrome de Goldenhar/genética , Hospitais Urbanos , Humanos , Recém-Nascido , Cariotipagem , Linhagem , Estudos Prospectivos , Encaminhamento e Consulta , Arábia Saudita/epidemiologia , Trissomia/patologia , Síndrome de Turner/complicações , Síndrome de Turner/epidemiologia , Síndrome de Turner/genética , População Urbana/estatística & dados numéricosRESUMO
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
