Brief clinical report: a 46,XY phenotypic female with Smith-Lemli-Opitz syndrome

Clin Genet. 1991 Feb;39(2):136-41. doi: 10.1111/j.1399-0004.1991.tb03000.x.


A phenotypic female infant with Smith-Lemli-Opitz (SLO) syndrome was found to have a 46,XY karyotype. Autopsy showed normal tests 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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adenoma, Islet Cell / congenital
  • Adenoma, Islet Cell / genetics*
  • Adenoma, Islet Cell / pathology
  • Diagnosis, Differential
  • Disorders of Sex Development / diagnosis
  • Disorders of Sex Development / genetics*
  • Disorders of Sex Development / pathology
  • Gonadal Dysgenesis, 46,XY / diagnosis
  • Gonadal Dysgenesis, 46,XY / genetics*
  • Gonadal Dysgenesis, 46,XY / pathology
  • Humans
  • Hypoglycemia / etiology*
  • Infant, Newborn
  • Karyotyping
  • Male
  • Pancreatic Neoplasms / congenital
  • Pancreatic Neoplasms / genetics*
  • Pancreatic Neoplasms / pathology