Hypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome

Horm Res. 1998 Sep;50(3):190-2. doi: 10.1159/000023272.

Abstract

We report on ovarian dysfunction in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). A gonadotropin releasing hormone test showed hyperresponses of luteinizing hormone (<0.2-->7.2 mIU/ml) and follicle-stimulating hormone (7.1-->44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13-->11 pg/ml). The results suggest that primary ovarian failure in type I BPES can take place in early childhood.

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis / complications*
  • Blepharophimosis / genetics
  • Blepharoptosis / complications*
  • Blepharoptosis / genetics
  • Child, Preschool
  • Chromosomes, Human, Pair 3 / genetics
  • Eyelids / abnormalities*
  • Female
  • Follicle Stimulating Hormone / blood
  • Gene Deletion
  • Gonadotropins / blood*
  • Humans
  • Hypogonadism / blood*
  • Hypogonadism / complications*
  • Hypogonadism / physiopathology
  • Luteinizing Hormone / blood
  • Ovary / physiopathology
  • Syndrome

Substances

  • Gonadotropins
  • Luteinizing Hormone
  • Follicle Stimulating Hormone