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Horm Metab Res 2015; 47(07): 491-496
DOI: 10.1055/s-0034-1389901
Endocrine Care
© Georg Thieme Verlag KG Stuttgart · New York

Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase Deficiency

S. Ben-Shachar   *
1   Genetic Institute, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
,
I. Ayalon   *
2   Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
,
H. Reznik-Wolf
3   Genetic Institute, Sheba Medical Center, Tel Hashomer, Israel
,
Y. Tenenbaum-Rakover
4   Pediatric Endocrine Unit, Ha’Emek Medical Center, Afula, Israel
5   The Technion Faculty of Medicine, Haifa, Israel
,
N. Zuckerman-Levin
5   The Technion Faculty of Medicine, Haifa, Israel
6   Pediatric Diabetes Unit, Meyer Children’s Hospital, Haifa, Israel
,
O. Cohen
7   Institute of Endocrinology, Sheba Medical Center, Tel Hashomer, Israel
8   Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
,
A. Lifshitz
9   Endocrinology, Kupat-Holim Clalit, Israel
,
M. Fraenkel
10   Endocrine Unit, Soroka Medical Center, and the Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel
,
Y. Toledano
11   Helen Schneider Hospital for Women, Rabin Medical Center, Petach Tikva, Israel
,
V. Rouach
12   Institute of Endocrinology, Metabolism and Hypertension, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
,
I. Koren
13   Pediatric Endocrinology Clinic, Armon Child Center, Clalit HMO, Haifa, Israel
,
D. Modan-Moses
8   Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
14   Pediatric Endocrinology and Diabetes Unit, The Edmond and Lily Safra Children’s Hospital, Sheba Medical Center, Tel Hashomer, Israel
,
D. Hirsch
8   Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
15   Institute for Endocrinology and Diabetes, Rabin Medical Center, Petah Tikva, Israel
,
A. Schachter-Davidov
2   Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
,
S. Israel
16   Tissue Typing Unit, Hadassah University Hospital, Jerusalem, Israel
,
O. Eyal   §
2   Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
8   Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
,
N. Weintrob   §
2   Pediatric Endocrinology and Diabetes Unit, Dana-Dwek Children’s Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
8   Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
› Author Affiliations
Further Information

Publication History

received 02 June 2014

accepted 06 August 2014

Publication Date:
17 September 2014 (online)

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Correction: Androgen Receptor CAG Repeat Length in Relation to Phenotype Among Females with Nonclassical 21-Hydroxylase DeficiencyHorm Metab Res 2015; 47(07): e6-e6
DOI: 10.1055/a-0594-0327

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.

Key words

congenital adrenal hyperplasia - NC21OHD - AR

* Equal contribution


§ O.E. and N.W are co-senior authors


 

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