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Cited by 60Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Presentation, acute illness, and learning difficulties in salt wasting 21-hydroxylase deficiency

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Donaldson, M D, Thomas, P H, Love, J G, Murray, G D, McNinch, A W, Savage, D C·1994·Archives of Disease in Childhood
DOI 10.1136/adc.70.3.214PMC PMC1029745
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Abstract

The presentation, pattern of acute illness, and incidence of learning difficulties are described in 63 (33 boys, 30 girls) children with salt wasting 21-hydroxylase deficiency, drawn from a cohort study of congenital adrenal hyperplasia in the South West Region of England between 1968 and 1988. Thirty boys presented with a salt losing crisis from birth whereas the other three boys presented between 2 and 14 months of age with failure to thrive and hyponatraemia. Diagnostic uncertainty led to 13 (43%) of 30 girls developing a salt losing crisis. Five girls were misassigned as boys at birth. There were four deaths in the group, two due to salt losing crisis, one to complications of prematurity possibly compounded by 21-hydroxylase deficiency, and one from heart failure probably related to an excess of steroids. Acute admissions were common, especially during the first year of life, with convulsions in 7% of admissions. The 9% incidence of hypoglycaemia was considered to be an underestimate as blood glucose was measured in only 56 (22%) of 254 admissions. No convulsions occurred in the 38 (15%) admissions where the parents had given intramuscular hydrocortisone before bringing the child to hospital. A high incidence of learning difficulties was found among the 59 surviving children (9/30 (30%) boys and 6/29 (21%) girls), and in only two children could any factor other than 21-hydroxylase deficiency be invoked. Analysis of the subgroup with learning difficulties indicated that they were more ill at presentation with a significantly higher incidence of hypoglycaemia, and that growth in the first year was significantly worse. It is concluded that congenital adrenal hyperplasia remains a formidable disorder with an appreciable mortality and morbidity. The high incidence of learning difficulties seen in salt wasting 21-hydroxylase deficiency needs further attention. A prospective study is indicated to examine the effect of neonatal screening on morbidity from congenital adrenal hyperplasia, particularly the intellectual impairment seen in this study.

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Crossref · 10.1136/adc.70.3.214

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  • One example of outcomes from the I-CAH Registry has been to define acute adverse events associated with adrenal insufficiency including sick day episodes, adrenal crises and hospitalizations among CAH patients.

    “One example of outcomes from the I-CAH Registry has been to define acute adverse events associated with adrenal insufficiency including sick day episodes, adrenal crises and hospitalizations among CAH patients (401).”

    From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [401]

    The Acute Illness section reports acute adrenal insufficiency and emergency hospital admissions in children with salt-wasting 21-hydroxylase deficiency. It does not describe an I-CAH Registry outcome or define sick-day episodes as an adverse-event category; the study is a retrospective regional cohort, not a registry analysis. (LLM, conf=0.88)

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  • Children with CAH are at greater risk for seizures, cognitive impairment, and increased mortality due to severe hypoglycemia associated with illness.

    “Further studies are needed to understand adrenomedullary morphology and function in very young children, especially those with CAH, who are at greater risk for seizures, cognitive impairment (13-15), and increased mortality (16) due to severe hypoglycemia associated with illness.”

    From Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia. (2014) · cites this paper as [15]

    The ACUTE ILLNESS section (page unavailable) documents hypoglycaemic convulsions and finds lower presenting blood glucose and more hypoglycaemic convulsions among children with learning difficulties. It does not establish that hypoglycaemia caused the learning difficulties; the authors discuss several possible causes. Increased mortality is separately cited to reference 16 in the citing sentence, so it is not assessed as an attribution to this paper. (LLM, conf=0.84)

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  • In a study looking at emergency hospital admissions of children with congenital adrenal hyperplasia, 24 admissions (9%) were due to hypoglycaemia and a third of these presented with hypoglycaemic seizures.

    “In a study looking at emergency hospital admissions of children with CAH, 24 admissions (9%) were due to hypoglycaemia and a third of these presented with hypoglycaemic seizures (39).”

    From Hypoglycaemia in adrenal insufficiency (2023) · cites this paper as [39]

    The ACUTE ILLNESS section reports hypoglycaemia in 24 (9%) admissions and convulsions with hypoglycaemia in eight of those admissions—one third. It does not say the admissions were due to hypoglycaemia; it says hypoglycaemia was documented during them. The study concerns children with salt-wasting 21-hydroxylase deficiency, a specific form of CAH. (LLM, conf=0.87)

    Experimental — accuracy not yet measured

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Research works printed but not linked: 2

  1. [7]7. Prader A. Der Genitalbefund bein Pseudohermaphro- ditismus feminus des kongenitalen adrenogenitalen Syndroms. Acta Helvetica Paediatrica 1954; 9: 231-43.
  2. [10]10. Money J, Lewis V. IQ, genetics and accelerated growth: adrenogenital syndrome. Johns Hopkins Hospital Bulletin 1966; 118: 365-73.

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Authors
Donaldson, M. D., Thomas, P. H., Love, J. G., Murray, G. D., McNinch, A. W., & Savage, D. C.
Affiliations
University of Glasgow (GB)
ORCID
Venue
Archives of Disease in Childhood
Publisher
BMJ
Published
1994-03-01
Volume
70
Issue
3
Pages
214-218
ISSN
  • 0003-9888 (ISSN-L)
  • 1468-2044
DOI
10.1136/adc.70.3.214
PMC
PMC1029745
OpenAlex
W2161244872
Cited by
60
References
15
Citations by year
2026: 1 · 2025: 2 · 2023: 2 · 2022: 2 · 2021: 5 · 2020: 2 · 2018: 1 · 2017: 1 · 2015: 2 · 2014: 2 · 2013: 4 · 2012: 2
FWCI
0.38
Type
journal article
Language
en
Open access
Locations
  • Archives of Disease in Childhood (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
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
congenital adrenal hyperplasia, learning difficulties, intellectual disability, hypoglycemia, hyponatremia, failure to thrive, acute admissions, convulsions, cortisol, newborn screening, mortality, morbidity, children
MeSH terms
Acute Disease, Adolescent, Adrenal Hyperplasia, Congenital, Child, Child, Preschool, Female, Humans, Infant, Learning Disabilities, Male, Retrospective Studies, Sodium Chloride

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