title: Frequency of the T228A polymorphism in the SORBS1 gene in children with premature pubarche and in adolescent girls with hyperandrogenism.
abstract: OBJECTIVE
  Because the metabolic actions of insulin are more impaired than the mitogenic pathways in polycystic ovary syndrome (PCOS), genes coding for proteins involved in insulin-mediated glucose transport can be considered as candidate genes. The sorbin and SH3-domain-containing-1 (SORBS1) gene codes for c-Cbl-associated protein (CAP) involved in insulin-mediated glucose uptake. An association study showed that a missense variant of the SORBS1 gene is protective against obesity and diabetes. We tested the hypothesis that the frequency of the protective allele would be decreased in children with premature pubarche and adolescent girls with hyperandrogenism.
  
  
  METHODS
  Association study.
  
  
  METHODS
  Academic research environment.
  
  
  METHODS
  Children referred for the evaluation of premature pubarche (n = 79), adolescent girls with hyperandrogenism (n = 56), and healthy nondiabetic controls (n = 50).
  
  
  METHODS
  None.
  
  
  METHODS
  Frequency of the T228A allele in our patients and the relationship of body mass index to presence or absence of the T228A variant in our patient population.
  
  
  RESULTS
  Using allele-specific restriction fragment length polymorphism, allele frequencies were found to be similar among the premature pubarche, hyperandrogenism, and control groups (6.0%, 4.6%, and 8.0%, respectively). No statistically significant relationships were found between the SORBS1 genotypes and body mass index or hormone status.
  
  
  CONCLUSIONS
  This SORBS1 polymorphism does not play a major role in premature pubarche, hyperandrogenism, and/or polycystic ovary syndrome in our patient population.
authors.affiliation: Division of Endocrinology, Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, Pennsylvania 15213, USA. selma.witchel@chp.edu
authors.forename: Selma F
authors.initials: SF
authors.lastname: Witchel
authors.forename: Ram N
authors.initials: RN
authors.lastname: Trivedi
authors.forename: Candace
authors.initials: C
authors.lastname: Kammerer
mesh_terms: D000293:Adolescent; D000483:Alleles; D000735:Androstenedione / Q000097:blood; D001786:Blood Glucose / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D005260:Female; D006628:Hirsutism / Q000097:blood / Q000235:genetics; D006801:Humans; D017588:Hyperandrogenism / Q000097:blood / Q000235:genetics*; D007328:Insulin / Q000097:blood; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics* / Q000502:physiology; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011629:Puberty, Precocious / Q000097:blood / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D007328:Insulin; D008840:Microfilament Proteins; C432967:SORBS1 protein, human; D000735:Androstenedione; D004247:DNA