Abnormal external genitalia

CONTEXT Steroid 5α-reductase type 2 deficiency (5α-RD2) is a male-limited, autosomal recessive inherited disease. Affected 46, XY… (More)

CONTEXT Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY… (More)

Carpenter syndrome, a rare autosomal recessive disorder characterized by a combination of craniosynostosis, polysyndactyly… (More)

OBJECTIVE To present prenatal diagnosis of chromosome 1p32-p31 deletion syndrome with NFIA haploinsufficiency, ventriculomegaly… (More)

We report on a 7-year-old girl with unequivocal features of Barber-Say syndrome (BSS): generalized hypertrichosis especially at… (More)

We report two sibling cases of Addison's disease without any evidence of sexual precocity, adrenal hyperplasia, or autoimmune… (More)

OBJECTIVE To report the first case of a 46XX female infant with Smith-Lemli-Opitz syndrome (SLOS), adrenal insufficiency and… (More)

A 1-year-old boy was referred to us because of abnormal external genitalia; that is, his penis was kinked toward the perineal… (More)

We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these patients were… (More)

Although trisomy 16 is well recognised in spontaneous abortuses, it is infrequent in livebirths and there is little information… (More)