Premium
Brief clinical report: a 46,XY phenotypic female with Smith‐Lemli‐Opitz syndrome
Author(s) -
Lachman Mary F.,
Wright Yvonne,
Whiteman David A. H.,
Herson Victor,
Greenstein Robert M.
Publication year - 1991
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1991.tb03000.x
Subject(s) - smith–lemli–opitz syndrome , virilization , endocrinology , medicine , dihydrotestosterone , biology , phenotype , testosterone (patch) , ambiguous genitalia , hormone , androgen , genetics , gene , biochemistry , 7 dehydrocholesterol reductase , reductase , enzyme
A phenotypic female infant with Smith‐Lemli‐Opitz (SLO) syndrome was found to have a 46,XY karyotype. Autopsy showed normal testes for age and normal Wolffian duct structures. The serum testosterone level was unusually high, suggesting that the failure of virilization of the external genitalia in the child might be due to a defect in testosterone conversion to dihydrotestosterone or a lack of end‐organ receptors for the same. An additional feature not previously described in association with SLO syndrome was present, which was clinical hypoglycemia with nesidioblastosis.