Mutational analysis of the melanocortin-4 receptor (MC4R) gene in children with premature pubarche and adolescent girls with hyperandrogenism

Fertil Steril. 2004 Nov;82(5):1460-2. doi: 10.1016/j.fertnstert.2004.07.924.

Abstract

To determine if variants in the melanocortin-4 receptor (MC4R) gene are associated with premature pubarche (PP) in children and hyperandrogenism (HA) in adolescent girls, we performed single-strand conformational polymorphism (SSCP) in 75 children (69 girls/six boys) with PP, 53 adolescent girls with HA, and 95 healthy adult control subjects. DNA sequence analysis of the conformers identified by SSCP revealed variants in six patients (two silent and one missense) and in none of the control subjects.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Case-Control Studies
  • Child
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Hyperandrogenism / genetics*
  • Male
  • Puberty, Precocious / genetics*
  • Receptor, Melanocortin, Type 4 / genetics*

Substances

  • Receptor, Melanocortin, Type 4