Mortality in children with classic congenital adrenal hyperplasia and 21-hydroxylase deficiency (CAH) in Germany
Open accessAbstract
BACKGROUND: Adrenal crises in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) are life-threatening and have the potential to death. METHODS: A survey was performed among Paediatric Endocrinologists in Germany to report on deceased children with CAH. Our survey covered the whole of Germany. RESULTS: The participating centres reported 14 cases of death (9 female, 5 male) from 1973 until 2004, but no deaths thereafter. 11 children had the SW form and 3 the simple virilizing (SV) form. All patients were on glucocorticoid replacement, and the SW forms additionally on mineralocorticoid replacement. The age at death varied between 6 weeks and 16.5 years. Seven children died before introduction of general neonatal screening, and 7 children thereafter. Before death, the clinical signs of impending crisis were nonspecific. Five patients developed hypoglycaemia and convulsions with cerebral oedema. Half of the deceased patients died at home. The hydrocortisone dosage was only doubled in two of the 14 cases. CONCLUSIONS: According to the assessments by the attending centres, almost all deaths could be related to an inadequate administration of stress doses of hydrocortisone. Since no deceased CAH children were reported in Germany from 2005 on, we assume the effectiveness of educational programs over the past years.
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The greater preponderance of severe genotypes in screened infants suggests extra deaths of severely affected infants prior to screening.
“again suggesting extra deaths of severely affected infants prior to screening (2,243).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [243]
The Methods report seven deaths before newborn screening was introduced in Germany, and the Results say all eight deceased children who could be genotyped had severe CAH. The paper does not compare genotype frequencies in screened and unscreened infants or infer extra deaths of severely affected infants before screening; most reported deaths occurred at ages 1–5 years. (LLM, conf=0.81)
Experimental — accuracy not yet measuredThere is a greater preponderance of severe genotypes in screened infants than in those ascertained prior to screening.
“Moreover, there is a greater preponderance of severe genotypes in screened infants than in those ascertained prior to screening, again suggesting extra deaths of severely affected infants prior to screening (2,243).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [243]
The Results (page unavailable) classify the genotypes of eight children who died as severe, and the Methods report seven deaths before screening and seven afterward. Neither section compares genotype frequencies among screened infants with those ascertained before screening; searches for that comparison found no such passage. (LLM, conf=0.73)
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References 35 · Cited by 22
- Authors
- on behalf of the German Society of Pediatric Endocrinology and Diabetology, Dörr, H. G., Wollmann, H. A., Hauffa, B. P., & Woelfle, J.
- Affiliations
- Universitätsklinikum Erlangen (DE)
- Universitätsklinikum Tübingen (DE)
- University Hospital Bonn (DE)
- Corresponding author
- Dörr, Helmuth G.
- Venue
- BMC Endocrine Disorders
- Published
- 2018-06-08
- Volume
- 18
- Issue
- 1
- Pages
- 37-37
- ISSN
- 1472-6823 (ISSN-L)
- PMC
- PMC5994009
- OpenAlex
- W2805532022
- Cited by
- 22
- References
- 35
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 3 · 2023: 1 · 2022: 4 · 2021: 5 · 2020: 2 · 2019: 2
- FWCI
- 0.79
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- BMC Endocrine Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- OPUS FAU (Kooperativer Bibliotheksverbund Berlin-Brandenburg (KOBV), on behalf of the Universitätsbibliothek Erlangen-Nürnberg) (submittedVersion, cc-by)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- classic congenital adrenal hyperplasia, 21-hydroxylase deficiency, child mortality, adrenal crisis, glucocorticoid replacement therapy, mineralocorticoid replacement, newborn screening, cerebral edema
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Child, Child, Preschool, Female, Germany, Humans, Infant, Male
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