Juberg-Marsidi syndrome: report of an additional case

Am J Med Genet. 1995 Sep 25;58(4):353-5. doi: 10.1002/ajmg.1320580410.

Abstract

We report on a 2-year-old boy with Juberg-Marsidi syndrome. He has mental retardation, short stature, micropenis, cryptorchidism, and minor facial abnormalities. His Leydig cells responded to the administration of human chorionic gonadotropin and there were positive responses of LH and FSH to the administration of LH-RH. He showed normal weight gain and head circumference which have not been described previously. The association of Juberg-Marsidi syndrome with HbH disease was ruled out in the propositus.

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Chorionic Gonadotropin / therapeutic use
  • Cryptorchidism / genetics
  • Deafness / genetics*
  • Dwarfism / genetics*
  • Follicle Stimulating Hormone / therapeutic use
  • Humans
  • Hypogonadism / drug therapy
  • Hypogonadism / genetics*
  • Intellectual Disability / genetics*
  • Luteinizing Hormone / therapeutic use
  • Male
  • Penis / abnormalities*
  • Syndrome
  • X Chromosome*

Substances

  • Chorionic Gonadotropin
  • Luteinizing Hormone
  • Follicle Stimulating Hormone