title: Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency.
abstract: Nonclassical 21-hydroxylase deficiency (NC21OHD) manifests with various degrees of post natal virilization. The length of CAG repeats of the androgen receptor gene (AR) is inversely correlated to activity of the human androgen receptor (AR) and affects phenotype of several androgen-dependent disorders. The aim of the study was to investigate the associations between CAG repeat length and the phenotype of females with NC21OHD. CAG repeat length and AR inactivation were assessed in females with NC21OHD, and related to their clinical presentation. CAG repeat length and AR inactivation were assessed in 119 females with NC21OHD. Biallelic mean (BAM) of the CAG repeat length and the weighted BAM (WBAM) were related to various clinical parameters. Age at diagnosis and age of menarche positively correlated with BAM (r=0.22, p=0.02, and r=0.23, p=0.01, respectively). A shorter (<25) BAM was associated with younger age at diagnosis (14.8 vs. 21.4 years, p<0.01), at adrenarche (8.1 vs. 10.2 years, p<0.01) and gonadarche (9.9 vs. 11.2 years, p<0.01), and higher corrected height standard deviation score at diagnosis (0.77 vs. 0.15, p=0.01). Precocious pubarche and precocious puberty were more frequent in these with the shorter BAM. Results of WBAM were similar. The CAG repeat length of the AR gene contributes to the clinical diversity of the phenotype in females with NC21OHD.
authors.affiliation: Genetic Institute, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Ben-Shachar
authors.affiliation: Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Ayalon
authors.affiliation: Genetic Institute, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Reznik-Wolf
authors.affiliation: Pediatric Endocrine Unit, Ha'Emek Medical Center, Afula, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Tenenbaum-Rakover
authors.affiliation: The Technion Faculty of Medicine, Haifa, Israel.
authors.forename: N
authors.initials: N
authors.lastname: Zuckerman-Levin
authors.affiliation: Institute of Endocrinology, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Cohen
authors.affiliation: Endocrinology, Kupat-Holim Clalit, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Lifshitz
authors.affiliation: Endocrine Unit, Soroka Medical Center, and the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: M
authors.initials: M
authors.lastname: Fraenkel
authors.affiliation: Helen Schneider Hospital for Women, Rabin Medical Center, Petach Tikva, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Toledano
authors.affiliation: Institute of Endocrinology, Metabolism and Hypertension, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: V
authors.initials: V
authors.lastname: Roash
authors.affiliation: Pediatric Endocrinology Clinic, Armon Child Center, Clalit HMO, Haifa, Israel.
authors.forename: I
authors.initials: I
authors.lastname: Koren
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Modan-Moses
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: D
authors.initials: D
authors.lastname: Hirsch
authors.affiliation: Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Schachter-Davidov
authors.affiliation: Tissue Typing Unit, Hadassah University Hospital, Jerusalem, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Israel
authors.affiliation: Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Eyal
authors.affiliation: Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: N
authors.initials: N
authors.lastname: Weintrob
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008572:Menarche / Q000235:genetics; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011944:Receptors, Androgen / Q000235:genetics*; D018911:Trinucleotide Repeats; D055815:Young Adult
chemical_list: D011944:Receptors, Androgen