Roldan Martin Maria Belen, White Carlie, Kammerer Candice, Witchel Selma Feldman
Division of Pediatric Endocrinology, Department of Pediatrics, and Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania
Fertil Steril. 2004 Nov;82(5):1460-2. doi: 10.1016/j.fertnstert.2004.07.924.
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.
