A genetic male infant with female phenotype in camptomelic syndrome: a possible relationship to exposure to oral contraceptives during pregnancy

Am J Obstet Gynecol. 1995 Mar;172(3):1042-3. doi: 10.1016/0002-9378(95)90042-x.

Abstract

PIP: Camptomelic syndrome is a severe malformation disorder affecting infant cartilage and bone formation. This syndrome is also characterized by sex reversal in a significant proportion of phenotypic females. In this case report, the authors describe a typical case of camptomelic syndrome in a black infant who had been exposed in utero to an oral contraceptive (OC). The infant was born after a full-term pregnancy. The mother had taken an OC containing 0.5-1.0 mg norethindrone and 0.035 mg ethinyl estradiol. Exposure had occurred for 6 months after conception. Parents were healthy and unrelated. The infant exhibited significant bone malformation in her legs, arms, feet, spine, and rib cage. Chromosome analysis yielded a normal 46,XY G-banded karyotype. The infant died at the age of 3 years, 6 months. Autopsy findings evidenced a female reproductive system. Microscopic examination of ovarian tissues revealed only immature sex cords; no oocytes were found. The authors briefly comment on camptomelic syndrome cases previously reported and implications of X-Y chromosome-gene effects associated with this syndrome. This may be the second reported case involving exposure to OCs early in pregnancy and sex reversal.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Contraceptives, Oral, Hormonal / adverse effects*
  • Disorders of Sex Development / etiology*
  • Female
  • Foot Deformities, Congenital
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias*
  • Pregnancy
  • Spine / abnormalities
  • Syndrome
  • Tibia / abnormalities*

Substances

  • Contraceptives, Oral, Hormonal