Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency

JAMA. 1986 Jun 20;255(23):3280-2.


A patient with Prader-Willi syndrome and unilateral congenital ectropion uveae with glaucoma was found to have factor XI deficiency and reduced levels of serum luteinizing hormone, follicle-stimulating hormone, and testosterone. Administration of gonadorelin (LH-RH) increased serum levels of luteinizing hormone and follicle-stimulating hormone, while clomiphene citrate had no effect, suggesting a primary hypothalamic defect. Patients with congenital ectropion uveae should be followed up for the development of both glaucoma and neural crest disorders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Clomiphene / therapeutic use
  • Factor XI Deficiency / complications*
  • Follicle Stimulating Hormone / blood
  • Glaucoma / complications*
  • Gonadotropin-Releasing Hormone
  • Humans
  • Iris / abnormalities*
  • Luteinizing Hormone / blood
  • Male
  • Prader-Willi Syndrome / blood
  • Prader-Willi Syndrome / complications*
  • Testosterone / analogs & derivatives
  • Testosterone / blood
  • Testosterone / therapeutic use


  • Clomiphene
  • Gonadotropin-Releasing Hormone
  • Testosterone
  • testosterone enanthate
  • Luteinizing Hormone
  • Follicle Stimulating Hormone