Caudal regression sequence

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.

Female pseudohermaphroditism

Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized.


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(per page)
PMID (PMCID)
9212182
 FEMALE Infant, Newborn
Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies.
Erickson RP, Stone JF, McNoe LA, Eccles MR.
Clin Genet. 1997;51(5):331-7.
The other identical twin did not show female pseudohermaphroditism with caudal dysplasia, but both patients had the rare birth defect of neonatal cataracts.
9212182
 FEMALE Infant, Newborn
Molecular and clinical studies of three cases of female pseudohermaphroditism with caudal dysplasia suggest multiple etiologies.
Erickson RP, Stone JF, McNoe LA, Eccles MR.
Clin Genet. 1997;51(5):331-7.
Female pseudohermaphroditism with caudal dysplasia is a clinical entity in which normal-appearing male genitalia may occur in the apparent absence of testosterone or the sex-determining gene (SR Y).