Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society

  title={Consensus Statement on 21-Hydroxylase Deficiency from The European Society for Paediatric Endocrinology and The Lawson Wilkins Pediatric Endocrine Society},
  author={Peter E. Clayton and Walter L. Miller and Sharon E. Oberfield and E. Martin Ritz{\'e}n and Wolfgang G. Sippell and Phyllis W Speiser},
  journal={Hormone Research in Paediatrics},
  pages={188 - 195}
Key Method1Writing Committee: Peter E. Clayton, Royal Manchester Children’s Hospital, Manchester, UK; Walter L. Miller*,University of California, San Francisco, Calif., USA; Sharon E. Oberfield, Columbia University, New York, N.Y., USA;E. Martin Ritzen, Karolinska Institute, Stockholm, Sweden; Wolfgang G. Sippell*, University Children’s Hospital,Kiel, Germany; Phyllis W. Speiser, New York University, New York, N.Y. (*co-chairs)

Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.

This statement is concerned exclusively with CAH caused by 21-hydroxylase deficiency and does not address the other rarer forms of CAH.

A Summary of the Endocrine Society Clinical Practice Guidelines on Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency

A brief overview of the most recent expert opinion and clinical practice guidelines for CAH as formulated by The Endocrine Society Task Force is given.

203 Patients Health Status of Adults with Congenital Adrenal Hyperplasia: A Cohort Study of

The results suggest that children born with Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) have a higher risk of developing central giant cell granuloma than those born with normal adrenal adrenal hyperplasia.

An Evidence-Based Model of Multidisciplinary Care for Patients and Families Affected by Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

The 2002 consensus statement recommendations for the management of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency are interpreted and translated into medical, surgical and mental health protocols and preliminary evidence that such protocols result in improved care and support for patients and families is provided.

Management of 21-hydroxylase deficiency congenital adrenal hyperplasia: A survey of Canadian paediatric endocrinologists.

It is demonstrated that there is general agreement among paediatric endocrinologists in Canada regarding the management of patients with CAH, which includes very little use of newer antiandrogen therapies.

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

  • T. IshiiM. Anzo T. Tajima
  • Medicine
    Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
  • 2015
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.

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline.

Clinical practice guidelines for congenital adrenal hyperplasia (CAH) recommend universal newborn screening for severe steroid 21-hydroxylase deficiency followed by confirmatory tests and recommend judicious use of medication during pregnancy and in symptomatic patients with nonclassic CAH.

Treatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

This special issue of the International Journal of Pediatric Endocrinology is intended to review the state of the art in medical treatment and psychological management as well as evaluations of the outcomes of patients with CAH.

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

A high international variability and discrepancy in the use of Pdex treatment across Europe is revealed, highlighting the importance of a European cooperation initiative for a joint international prospective trial to establish evidence-based guidelines on prenatal diagnostics, treatment and follow-up of pregnancies at risk for CAH.

Endocrine Society Congenital Adrenal Hyperplasia Guidelines: Great content but how to deliver?

The guidelines provide a balanced account of the clinical care that should be provided for children, young people and young adults at the end of the first decade of the 21st century and concerns the use of antenatal treatment with dexamethasone.



Effects on Control and Growth

Reintroduction of mineralocorticoid therapy at ages 5.0–9.4 years resulted in a marked improvement of control, significant reduction in hydrocortisone requirements (to 17.6±1.4 mg/m2/day) and improvement in linear growth.

Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis.

Adult height in patients with 21-hydroxylase deficiency is often within 1 SD of TH, and efforts may be focused on early detection and improved compliance with traditional medical therapy.

Clinical and molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

The adrenal cortex produces three principal categories of steroid hormones that regulate a wide variety of physiologic processes from fetal to adult life and it is important to understand the steroidogenic pathways and the enzymes that mediate steroid hormone synthesis.

Failure of cortisone acetate treatment in congenital adrenal hyperplasia because of defective 11beta-hydroxysteroid dehydrogenase reductase activity.

The results support the use of hydrocortisone, rather than cortisone acetate, for substitution therapy in adrenal insufficiency.

Congenital adrenal hyperplasia: management during critical illness

Critically ill patients with classical CAH may be best managed with a single intravenous hydrocortisone bolus followed by a constant rate infusion of hydroc Cortisone.

Procedure for Neonatal Screening for Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Procedures for screening for congenital adrenal hyperplasia are recommended here in order to provide a structure to the testing and ultimately bring together data that will allow the effect of screening to be judged for benefit or dismissed as no better than clinical recognition of the disease state.

What causes low rates of child-bearing in congenital adrenal hyperplasia?

  • H. Meyer-Bahlburg
  • Medicine, Biology
    The Journal of clinical endocrinology and metabolism
  • 1999
The purpose of the present paper is to revisit the issue, review the status of the empirical evidence, especially the role of behavioral determinants, and suggest additional hormone-related psychological factors that may contribute to the low fertility rates of CAH women.

Developmental endocrinology : from research to clinical practice

Part I. Hypothalamus/Pituitary Transcriptional Control of the Development and Function of the Hypothalamic-Pituitary Axis Gretchen E. Parker, Kyle W. Sloop, and Simon J. Rhodes Part II. Growth

Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.

Prenatal diagnosis and proper prenatal treatment of 21-OHD are effective in significantly reducing or eliminating virilization in the newborn female, and spares the affected female the consequences of genital ambiguity, genital surgery, and possible sex misassignment.

US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN).

State NBS programs reflect the need for a coordinated system of services for follow-up, diagnosis, and treatment of children identified with a disorder requiring special health care services.