Clitoromegaly dating

In 11 cases initial US scan was performed at 13–15 wk; in 7 of 11, although the initial scan was normal, a repeated scan later in gestation revealed an abnormality.Repeated US scans performed at 13–15 and 22–24 wk gestation are a helpful tool in prenatal diagnosis of sex differentiation disorders.The first family, of European-American ancestry, had two 46, XX children with ovotestes.The first child presented with ambiguous genitalia at birth.The mother had anal stenosis with rectovaginal fistula, significant clitoromegaly, right pelvic kidney, hydronephrosis on the left, a narrow nose, asymptomatic ventricular septal defect, 3-5 syndactyly on the left foot, and 4-5 syndactyly on the right foot.The daughter had anal stenosis, clitoromegaly, solitary pelvic kidney, 3-5 syndactyly on the left foot, and 2-5 syndactyly on the right foot. (2008) identified 4 unrelated girls with anogenital and renal malformations, dysmorphic facial features, normal intellect, and syndactyly of toes.Gonads were palpable in the right inguinal region and in the left labioscrotal fold. Vaginoscopy revealed a rudimentary vagina and uterine cervix.

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The clitoris is closely linked to the mechanism of sexual arousal in women. All, however, are among the relatively rare birth defects.

Five fetuses were diagnosed with female pseudohermaphroditism (21-hydroxylase deficiency in 3 and urorectal septum malformation sequence in 2).

Four fetuses were diagnosed with male pseudohermaphroditism (1 with steroid sulfatase deficiency, 1 with presumed camptomelic dysplasia, and 2 undetermined).

There was a good testosterone response to 3-day h CG (see 118860) stimulation. A younger brother was born with severe penoscrotal hypospadias but palpable gonads in the scrotum.

(1996) described a mother and daughter with a consistent complex of malformations.


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