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      Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

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          Abstract

          Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The “Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.

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          Congenital adrenal hyperplasia.

          Deborah P. Merke, Stefan R. Bornstein (2005)
          Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of the adrenal cortex characterised by cortisol deficiency, with or without aldosterone deficiency, and androgen excess. Patients with the most severe form also have abnormalities of the adrenal medulla and epinephrine deficiency. The severe classic form occurs in one in 15,000 births worldwide, and the mild non-classic form is a common cause of hyperandrogenism. Neonatal screening for CAH and gene-specific prenatal diagnosis are now possible. Standard hormone replacement fails to achieve normal growth and development for many children with CAH, and adults can experience iatrogenic Cushing's syndrome, hyperandrogenism, infertility, or the development of the metabolic syndrome. This Seminar reviews the epidemiology, genetics, pathophysiology, diagnosis, and management of CAH, and provides an overview of clinical challenges and future therapies.
          Article 0 comments Cited 139 times – based on 0 reviews     Review now
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            Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.

            Charles F Verge, Ethylin Wang Jabs, Amit Pandey … (2004)
            Deficient activities of multiple steroidogenic enzymes have been reported without and with Antley-Bixler syndrome (ABS), but mutations of corresponding cytochrome P450 enzymes have not been found. We identified mutations in POR, encoding P450 oxidoreductase, the obligate electron donor for these enzymes, in a woman with amenorrhea and three children with ABS, even though knock-out of POR is embryonically lethal in mice. Mutations of POR also affect drug-metabolizing P450 enzymes, explaining the association of ABS with maternal fluconazole ingestion.
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              Consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.

              Lourdes Ibañez, Peter Clayton (2002)
              Article 0 comments Cited 76 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Clin Pediatr Endocrinol
                Journal ID (iso-abbrev): Clin Pediatr Endocrinol
                Journal ID (publisher-id): CPE
                Title: Clinical Pediatric Endocrinology
                Publisher: The Japanese Society for Pediatric Endocrinology
                ISSN (Print): 0918-5739
                ISSN (Electronic): 1347-7358
                Publication date (Electronic): 18 July 2015
                Publication date (Print): July 2015
                Volume: 24
                Issue: 3
                Pages: 77-105
                Affiliations
                [ 1 ] Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan
                [ 2 ] Department of Pediatrics, Kawasaki City Hospital, Kanagawa, Japan
                [ 3 ] Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Kanagawa, Japan
                [ 4 ] Shimane University Hospital Postgraduate Clinical Training Center, Shimane, Japan
                [ 5 ] Maternal and Perinatal Center, Tokyo Women’s Medical University, Tokyo, Japan
                [ 6 ] Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
                [ 7 ] Division of Neonatal Screening, National Center for Child Health and Development, Tokyo, Japan
                [ 8 ] Department of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan
                [ 9 ] Division of Endocrinology, Chiba Children’s Hospital, Chiba, Japan
                [10 ] Department of Pediatrics, Teikyo University Chiba Medical Center, Chiba, Japan
                [11 ] Departments of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan
                [12 ] Kanagawa Health Service Association, Kanagawa, Japan
                [13 ] Sapporo IDL, Sapporo, Japan
                [14 ] Department of Pediatrics, Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
                Author notes
                Corresponding author: Toshihiro Tajima, Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo 060-0835, Japan. E-mail: tajeari@ 123456hokudai.med.ac.jp
                Article
                Publisher ID: 2015-0001
                DOI: 10.1297/cpe.24.77
                PMC ID: 4639531
                PubMed ID: 26594092
                SO-VID: 865e2dd4-5a71-4f91-a0b2-a040d73c1899
                Copyright © 2015©The Japanese Society for Pediatric Endocrinology
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives (by-nc-nd) License.

                History
                Date received : 14 February 2015
                Date accepted : 10 March 2015
                Categories
                Subject: Original Article

                Keywords: 21-hydroxylase deficiency,mass screening,guideline
                Data availability:
                Keywords: 21-hydroxylase deficiency, mass screening, guideline

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