Rp. Erickson et al., MOLECULAR-STUDIES AND CLINICAL-STUDIES OF 3 CASES OF FEMALE PSEUDOHERMAPHRODITISM WITH CAUDAL-DYSPLASIA SUGGEST MULTIPLE ETIOLOGIES, Clinical genetics, 51(5), 1997, pp. 331-337
Female pseudohermaphroditism with caudal dysplasia is a clinical entit
y in which normal-appearing male genitalia may occur in the apparent a
bsence of testosterone or the sex-determining gene (SRY). We have exte
nded observations of two previously reported cases, and report a third
case, which strongly suggests multiple etiologies. The first case was
one of identical twins. The other identical twin did not show female
pseudohermaphroditism with caudal dysplasia, but both patients had the
rare birth defect of neonatal cataracts. We have explored skewed X-in
activation as a possible difference between the two twins, with a nega
tive result. The second case had a deletion at 10q25.3-->ter. This is
near the location of PAX2, and we searched for mutations in PAX2 in bo
th this and the first case, with negative results. Neither patient had
a scrotal raphe, suggesting that a failure of division of the cloacal
membrane was an important step in their development of female pseudoh
ermaphroditism. The final case is newly described and differed from th
e above two in the presence of a scrotal raphe and an elevated testost
erone level. Although no source for the testosterone was found, this c
ase suggests that the etiology in this patient was different and that
the presence of a scrotal raphe can be used to distinguish between at
least two etiologies.