title: Mutational analysis of the melanocortin-4 receptor (MC4R) gene in children with premature pubarche and adolescent girls with hyperandrogenism.
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.
authors.affiliation: Division of Pediatric Endocrinology, Department of Pediatrics, and Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
authors.forename: Maria Belen
authors.initials: MB
authors.lastname: Roldan Martin
authors.forename: Carlie
authors.initials: C
authors.lastname: White
authors.forename: Candice
authors.initials: C
authors.lastname: Kammerer
authors.forename: Selma Feldman
authors.initials: SF
authors.lastname: Witchel
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017588:Hyperandrogenism / Q000235:genetics*; D008297:Male; D011629:Puberty, Precocious / Q000235:genetics*; D044105:Receptor, Melanocortin, Type 4 / Q000235:genetics*
chemical_list: D044105:Receptor, Melanocortin, Type 4