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Cited by 111Sexual Differentiation and DisordersAdrenal Hormones and DisordersHormonal Regulation and Hypertension

Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden

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Strandqvist, A., Falhammar, H., Lichtenstein, P., Hirschberg, A. L., Wedell, A., Norrby, C., Nordenskjöld, A., Frisén, L. +1 more·2014·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2013-3326
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Abstract

CONTEXT: Congenital adrenal hyperplasia (CAH), CYP21A2 deficiency, results in cortisol and aldosterone deficiency and increased production of androgens, with a good genotype phenotype correlation. OBJECTIVE: The objective of the investigation was to study psychosocial outcomes in relation to clinical severity, CYP21A2 genotype, in men and women. DESIGN: This was an epidemiological study with a matched case control design. SETTING: The setting of the study was all known CAH patients in Sweden. PARTICIPANTS: Five hundred eighty-eight patients, more than 80% with known severity of CAH, and 100 controls per patient matched for sex, year, and place of birth participated in the study. MAIN OUTCOME AND MEASURES: Proxies for quality of life were selected: level of education, employment, income, sick leave, disability pension, marriage, and children. RESULTS: Women with salt-wasting (SW) CAH had completed primary education less often [odds ratio (OR) 0.3], not explained by neonatal salt crisis or hypoglycemia because the men did not differ from controls. Men and women in the less severe I172N genotype group were more likely to have an academic education (OR 1.8). SW women were more likely to have an income in the top 20th percentile (OR 2.0). Both men and women had more disability pension (OR 1.5) and sick leave (OR 1.7). The men more often had long-lasting employment (OR 3.1). Men were more often (OR 1.6) and women were less often married (OR 0.7). Patients had children less often (OR 0.3). CONCLUSIONS: This study shows important outcome differences regarding education; employment; marriage and fertility, depending on sex; and severity of CAH. The mechanisms behind this and the increased risk for sick leave or disability pension in both men and women should be identified to improve medical and psychological care.

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Authors
Strandqvist, A., Falhammar, H., Lichtenstein, P., Hirschberg, A. L., Wedell, A., Norrby, C., Nordenskjöld, A., Frisén, L., & Nordenström, A.
Affiliations
  • Departments of Paediatric Endocrinology (A.S., A.Nordenst.), SE-171 76 Stockholm, Sweden
  • Diabetes (H.F.), SE-171 76 Stockholm, Sweden
  • Medical Epidemiology and Biostatistics (P.L., C.N.), SE-171 77 Stockholm, Sweden
  • Women's and Children's Health (A.S., A.L.H., A.Nordensk., A.Nordenst.), SE-171 77 Stockholm, Sweden
  • Karolinska University Hospital (SE)
  • Paediatric Surgery (A.Nordensk.), Astrid Lindgren Children Hospital, Departments of Endocrinology, Metabolism, SE-171 76 Stockholm, Sweden
  • Karolinska Institutet (SE)
Corresponding author
Strandqvist, A.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2014-04-01
Volume
99
Issue
4
Pages
1425-1432
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2013-3326
OpenAlex
W2074553879
Cited by
111
References
41
Citations by year
2026: 3 · 2025: 10 · 2024: 11 · 2023: 6 · 2022: 10 · 2021: 6 · 2020: 14 · 2019: 9 · 2018: 12 · 2017: 7 · 2016: 8 · 2015: 11 · 2014: 3
FWCI
3.96
Type
journal article
Language
en
Open access
Licence
cc-by
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
  • Figshare (submittedVersion, cc-by)
  • Open Archive (Karolinska Institutet) (submittedVersion, other-oa)
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
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
Keywords
congenital adrenal hyperplasia, psychosocial outcomes, quality of life, salt-wasting CAH, disease severity, sex differences, educational attainment, employment, sick leave, disability pension, marriage, fertility, children, national cohort
MeSH terms
Adolescent, Adrenal Hyperplasia, Congenital, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Humans, Male, Middle Aged, Psychology, Quality of Life, Severity of Illness Index, Steroid 21-Hydroxylase, Sweden, Cohort Studies, Case-Control Studies, Young Adult, Genetic Association Studies

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