Cat eye syndrome with hypogonadotropic hypogonadism

Intern Med. 1998 Oct;37(10):853-6. doi: 10.2169/internalmedicine.37.853.

Abstract

A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with hypogonadotropic hypogonadism showed short stature and no development of secondary sex characteristics. Exogeneous gonadotropin replacement therapy combining human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) was started. As a result, the short stature and androgen deficiency were relieved. The critical region of CES was tetrasomy of 22 pter-->q11. Abnormalities of other chromosomes which cause hypogonadotropic hypogonadism may exist, thus further investigation is needed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Anus, Imperforate / genetics
  • Chorionic Gonadotropin / therapeutic use
  • Chromosomes, Human, Pair 22 / genetics*
  • Dwarfism, Pituitary / genetics
  • Humans
  • Hypogonadism / drug therapy
  • Hypogonadism / genetics*
  • Hypopituitarism / drug therapy
  • Hypopituitarism / genetics*
  • Male
  • Menotropins / therapeutic use
  • Pituitary Hormones / blood
  • Pituitary Hormones / deficiency
  • Puberty, Delayed / drug therapy
  • Puberty, Delayed / etiology
  • Syndrome
  • Testosterone / blood
  • Testosterone / deficiency
  • Trisomy*

Substances

  • Chorionic Gonadotropin
  • Pituitary Hormones
  • Testosterone
  • Menotropins