Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia

Author:

Juniarto A. Zulfa1,van der Zwan Yvonne G.23,Santosa Ardy4,Ariani Mahayu Dewi1,Eggers Stefanie5,Hersmus Remko3,Themmen Axel P.N.6,Bruggenwirth Hennie T.7,Wolffenbuttel Katja P.8,Sinclair Andrew5,White Stefan J.9,Looijenga Leendert H.J.3,de Jong Frank H.1,Faradz Sultana M.H.1,Drop Stenvert L.S.2

Affiliation:

1. Division of Human Genetics; Center for Biomedical Research Faculty of Medicine Diponegoro University (FMDU); Semarang Indonesia

2. Department of Paediatrics; Division of Endocrinology; Sophia Children's Hospital; Erasmus University Medical Centre; Rotterdam The Netherlands

3. Department of Pathology; Josephine Nefkens Institute; Erasmus University Medical Centre; Rotterdam The Netherlands

4. Department of Urology; Dr Kariadi Hospital; Semarang Indonesia

5. Murdoch Children's Research Institute; Royal Children's Hospital and Department of Paediatrics; University of Melbourne; Melbourne Australia

6. Department of Internal Medicine; Section of Endocrinology; Erasmus University Medical Centre; Rotterdam The Netherlands

7. Department of Clinical Genetics; Erasmus University Medical Centre; Rotterdam The Netherlands

8. Department of Paediatric Urology; Erasmus University Medical Centre; Rotterdam The Netherlands

9. Centre for Genetic Diseases; MIMR-PHI Institute of Medical Research; Monash University; Clayton Australia

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference44 articles.

1. Anomalies of human sexual development: clinical aspects and genetic analysis;Vilain;Novartis Foundation Symposium,2002

2. Molecular and cellular machinery of gonadal differentiation in mammals;Piprek;International Journal of Developmental Biology,2010

3. UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development;Ahmed;Clinical Endocrinology (Oxford),2011

4. Application of the new classification on patients with a disorder of sex development in indonesia;Juniarto;International Journal of Endocrinology,2012

5. Androgen receptor defects: historical, clinical, and molecular perspectives;Quigley;Endocrine Reviews,1995

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