Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management

Author:

Claahsen - van der Grinten Hedi L1ORCID,Speiser Phyllis W2ORCID,Ahmed S Faisal3,Arlt Wiebke45ORCID,Auchus Richard J6,Falhammar Henrik78ORCID,Flück Christa E9,Guasti Leonardo10,Huebner Angela11ORCID,Kortmann Barbara B M12,Krone Nils1314,Merke Deborah P15,Miller Walter L16,Nordenström Anna1718,Reisch Nicole19,Sandberg David E20,Stikkelbroeck Nike M M L21,Touraine Philippe22ORCID,Utari Agustini23,Wudy Stefan A24,White Perrin C25ORCID

Affiliation:

1. Department of Pediatric Endocrinology, Radboud University Medical Centre, Amalia Childrens Hospital, Nijmegen, The Netherlands

2. Cohen Children’s Medical Center of NY, Feinstein Institute, Northwell Health, Zucker School of Medicine, New Hyde Park, NY 11040, USA

3. Developmental Endocrinology Research Group, School of Medicine Dentistry & Nursing, University of Glasgow, Glasgow, UK

4. Institute of Metabolism and Systems Research (IMSR), College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK

5. Department of Endocrinology, Queen Elizabeth Hospital, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK

6. Division of Metabolism, Endocrinology, and Diabetes, Departments of Internal Medicine and Pharmacology, University of Michigan, Ann Arbor, MI 48109, USA

7. Department of Molecular Medicine and Surgery, Karolinska Intitutet, Stockholm, Sweden

8. Department of Endocrinology, Karolinska University Hospital, Stockholm, Sweden

9. Pediatric Endocrinology, Diabetology and Metabolism, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland

10. Centre for Endocrinology, William Harvey Research Institute, Bart’s and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK

11. Division of Paediatric Endocrinology and Diabetology, Department of Paediatrics, Universitätsklinikum Dresden, Technische Universität Dresden, Dresden, Germany

12. Radboud University Medical Centre, Amalia Childrens Hospital, Department of Pediatric Urology, Nijmegen, The Netherlands

13. Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK

14. Department of Medicine III, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

15. National Institutes of Health Clinical Center and the Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD 20892, USA

16. Department of Pediatrics, Center for Reproductive Sciences, and Institute for Human Genetics, University of California, San Francisco, CA 94143, USA

17. Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden

18. Pediatric Endocrinology, Karolinska University Hospital, Stockholm, Sweden

19. Medizinische Klinik IV, Klinikum der Universität München, Munich, Germany

20. Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, University of Michigan, Ann Arbor, MI 48109, USA

21. Radboud University Medical Centre, Department of Endocrinology, Nijmegen, Netherlands

22. Department of Endocrinology and Reproductive Medicine, Center for Rare Endocrine Diseases of Growth and Development, Center for Rare Gynecological Diseases, Hôpital Pitié Salpêtrière, Sorbonne University Medicine, Paris, France

23. Division of Pediatric Endocrinology, Department of Pediatrics, Faculty of Medicine, Diponegoro University, Semarang, Indonesia

24. Steroid Research & Mass Spectrometry Unit, Laboratory of Translational Hormone Analytics, Division of Paediatric Endocrinology & Diabetology, Justus Liebig University, Giessen, Germany

25. Division of Pediatric Endocrinology, UT Southwestern Medical Center, Dallas TX 75390, USA

Abstract

Abstract Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to chronic overstimulation of the adrenal cortex and accumulation of precursors proximal to the blocked enzymatic step. The most common form of CAH is caused by steroid 21-hydroxylase deficiency due to mutations in CYP21A2. Since the last publication summarizing CAH in Endocrine Reviews in 2000, there have been numerous new developments. These include more detailed understanding of steroidogenic pathways, refinements in neonatal screening, improved diagnostic measurements utilizing chromatography and mass spectrometry coupled with steroid profiling, and improved genotyping methods. Clinical trials of alternative medications and modes of delivery have been recently completed or are under way. Genetic and cell-based treatments are being explored. A large body of data concerning long-term outcomes in patients affected by CAH, including psychosexual well-being, has been enhanced by the establishment of disease registries. This review provides the reader with current insights in CAH with special attention to these new developments.

Funder

National Institutes of Health

Publisher

The Endocrine Society

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Reference739 articles.

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

2. One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study;Gidlöf;Lancet Diabetes Endocrinol.,2013

3. Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina;Gruñieiro-Papendieck;J Pediatr Endocrinol Metab.,2008

4. Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia;Gleeson;J Paediatr Child Health.,2008

5. Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period;Shetty;J Paediatr Child Health.,2012

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3