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

Cah, Espe; Clayton, Peter E.; Oberfield, Sharon E.; Ritzén, E. M.; Sippell, Wolfgang G.; Speiser, Phyllis

doi:10.1159/000065490

Cited by 192 publications

(83 citation statements)

References 28 publications

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“…The disorder is characterized by been found (2). Continuous glucocorticoid therapy is required, combined with mineralocorticoid substitution in most cases, and published guidelines highly recommend regular examinations at a specialized endocrinology center (3).…”

Section: Introductionmentioning

confidence: 99%

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Odenwald

Nennstiel-Ratzel

Dörr

et al. 2016

European Journal of Endocrinology

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Objective: To evaluate adrenal crises after the start of treatment up to the age of 6 years in children with classic congenital adrenal hyperplasia (CAH). Design: Analysis of data extracted from a population-based prospective long-term follow-up study of children detected in neonatal screening. Methods: Data of 102 Bavarian children with classic CAH due to 21-hydroxylase deficiency were analyzed, using parental questionnaires and medical reports. Parent-reported hospital admissions of children diagnosed with acute health impairment were included in the analysis if salt loss (hyponatremia) or hypoglycemia was documented in the discharge summary. Results: A total of 74 children (72.5%) had no report of hospital admissions with salt loss or hypoglycemia during the observational period. However, in 27.5% of the children, 22 salt-wasting crises (seven of these also with low blood glucose) and 16 hypoglycemic episodes without salt loss were reported. Furthermore, the cumulative incidence for seizures was elevated; 13 children experienced seizures during hyponatremia or hypoglycemia. Most adrenal crises were triggered by infections, often with inappropriate emergency management, but in 11 cases hypoglycemia occurred unexpectedly, without evidence of severe illness and without any management errors. Frequency of adrenal crises was 6.5 per 100 patient years (95% CI: 4.6-8.8). Conclusions: Crisis prevention remains a permanent challenge for families and physicians caring for children with classic CAH. Expert care and compliance with emergency recommendations are crucial. Further research on the interactions among glucocorticoid deficiency, adrenomedullary dysfunction, and glucose metabolism is necessary for the prevention of hypoglycemia, especially in young CAH patients.

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Section: Introductionmentioning

confidence: 99%

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Odenwald

Nennstiel-Ratzel

Dörr

et al. 2016

European Journal of Endocrinology

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“…The reader is referred to brief [2] and comprehensive [3] reviews of this disease for background. A “Consensus Statement” had been published jointly by representatives of pediatric endocrine societies in 2002 [4, 5], and the present Task Force made an effort to include more information regarding adult patients. In addition, the 2010 Endocrine Society Guideline had the benefit of panel members who are experts in evidence based medicine, specifically, systematic literature review and meta-analysis.…”

Section: Introductionmentioning

confidence: 99%

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

Speiser

Azziz

Baskin

et al. 2010

International Journal of Pediatric Endocrinology

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Steroid 21-hydroxylase deficiency accounts for about 95% of cases of congenital adrenal hyperplasia (CAH). Newborns are currently being screened for the classical forms of this disease throughout the United States and in 12 other countries. As such, it seems important to develop the best practice guidelines for treating not only infants and children, but affected adults as well. This report gives a brief overview of the most recent expert opinion and clinical practice guidelines for CAH as formulated by The Endocrine Society Task Force.

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“…The most common form of CAH, comprising more than 95% of all cases, is 21-hydroxylase (CYP21) deficiency [8]. A number of countries, including Sweden, have neonatal screening programs for CYP21 deficiency, where 17-OHP, the metabolite prior to the enzyme block, is used as an indicator of the disease [9, 10].…”

Section: Introductionmentioning

confidence: 99%

A Case of 3β-Hydroxysteroid Dehydrogenase Type II (HSD3B2) Deficiency Picked up by Neonatal Screening for 21-Hydroxylase Deficiency: Difficulties and Delay in Etiologic Diagnosis

2007

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Background: 3β-Hydroxysteroid dehydrogenase type II deficiency, a rare form of congenital adrenal hyperplasia, is characterized by varying degrees of salt loss and incomplete masculinization in males and mild virilization or normal external genitalia in females. The clinical signs may be difficult to recognize, increasing the risk of a neonatal adrenal crisis. In addition, elevated 17α-hydroxyprogesterone and androstenedione levels due to peripheral HSD3B1 activity may lead to a delay of the correct diagnosis and even to misdiagnosis as CYP21 deficiency. Method: We report a patient who was detected on neonatal screening for 21-hydroxylase deficiency, in part because of cross-reactivity in the commonly used assay. Results: The diagnostic difficulties in this case were overcome by the use of more specific antibodies. Conclusion: This case emphasizes the importance of confirming the etiological diagnosis with molecular genetic analyses.

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

Cited by 192 publications

References 28 publications

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

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

A Case of 3β-Hydroxysteroid Dehydrogenase Type II (HSD3B2) Deficiency Picked up by Neonatal Screening for 21-Hydroxylase Deficiency: Difficulties and Delay in Etiologic Diagnosis

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