Mode of inheritance in familial cases of primary gonadotropic deficiency

Horm Res. 1988;29(5-6):202-6. doi: 10.1159/000181003.

Abstract

The mode of inheritance of primary gonadotropic deficiency was studied in 38 children and adolescents. 92% of this population was male with high frequencies of undescended testes (80%) and micropenis (31%). Anosmia was present in 61% of the patients aged more than 5 years and was a frequent genetic marker in the families. Inheritance was matrilineal in 18, X-linked dominant or autosomal dominant in 6. In 13 cases, the transmission was patrilineal and evoked autosomal dominant inheritance. An autosomal recessive transmission was likely in 7 patients. The data agree with the suggestion of multiple modes of inheritance of congenital gonadotropic deficiency, and clearly show the wide range of expressivity of the disorder.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chorionic Gonadotropin
  • Female
  • Follicle Stimulating Hormone / blood
  • Genes, Dominant
  • Gonadotropin-Releasing Hormone / blood
  • Gonadotropins / deficiency*
  • Humans
  • Hypogonadism / genetics*
  • Luteinizing Hormone / blood
  • Male
  • Pedigree
  • Syndrome
  • Testosterone / blood
  • X Chromosome

Substances

  • Chorionic Gonadotropin
  • Gonadotropins
  • Gonadotropin-Releasing Hormone
  • Testosterone
  • Luteinizing Hormone
  • Follicle Stimulating Hormone