No Correlation between Androgen Receptor CAG and GGN Repeat Length and the Degree of Genital Virilization in Females with 21-Hydroxylase Deficiency

Author:

Welzel M.1,Schwarz H.-P.2,Hedderich J.3,Dörr H. G.4,Binder G.5,Brämswig J. H.6,Krude H.7,Richter-Unruh A.8,Niedziela M.9,Gromoll J.10,Krone N.11,Riepe F. G.1,Holterhus P.-M.1

Affiliation:

1. Division of Pediatric Endocrinology and Diabetes (M.W., F.G.R., P.-M.H.), Christian-Albrechts University, 24105 Kiel, Germany

2. Division of Endocrinology and Diabetology (H.-P.S.) University Children’s Hospital, 80337 Munich, Germany

3. Department of Pediatrics, Institute of Medical Informatics and Statistics (J.H.), Christian-Albrechts University, 24105 Kiel, Germany

4. Division of Pediatric Endocrinology (H.G.D.), Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander-University of Erlangen-Nürnberg, 91054 Erlangen, Germany

5. University-Children’s Hospital (G.B.), Division of Pediatric Endocrinology, 72076 Tübingen, Germany

6. University Children’s Hospital (J.H.B.), Division of Pediatric Endocrinology, 48149 Münster, Germany

7. Charité, Institute for Experimental Pediatric Endocrinology (H.K.), 13353 Berlin, Germany

8. Endokrinologikum Ruhr (A.R.-U.), Medizinisches Versorgungszentrum für Hormon- und Stoffwechselerkrankungen, 44866 Bochum, Germany

9. Department of Pediatric Endocrinology and Diabetes (M.N.), University of Medical Sciences, 60-637 Poznań, Poland

10. Institutes of Reproductive Medicine (J.G.) University of Münster, 48129 Münster, Germany

11. Division of Medical Sciences (N.K.), Institute of Biomedical Research, University of Birmingham, Edgbaston, Birmingham B15 2TT, United Kingdom

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference33 articles.

1. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency;White;Endocr Rev,2000

2. Genital findings in the female pseudo-hermaphroditism of the congenital adrenogenital syndrome; morphology, frequency, development and heredity of the different genital forms;Prader;Helv Paediatr Acta,1954

3. Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency;Speiser;J Clin Invest,1992

4. Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany;Krone;J Clin Endocrinol Metab,2000

5. Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation;Araujo;Clin Endocrinol (Oxf),2005

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