Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
Abstract
Isolated glucocorticoid failure associated with achalasia of the cardia is described in two pairs of siblings in separate families. Defective tear production is also present in three of the patients, and one shows other signs of autonomic dysfunction. Two other families with adrenal insufficiency and achalasia are known. This unusual association probably represents a familial disorder of as yet unknown aetiology.
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Triple A (Allgrove) syndrome consists of ACTH-resistant adrenal deficiency (80%), achalasia of the cardia (85%), and alacrima (90%).
“Triple A (Allgrove) syndrome consists of: 1) ACTHresistant adrenal (glucocorticoid) deficiency (80% of individuals); 2) achalasia of the cardia (85%); and 3) alacrima (90%) (627).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [627]
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
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Poorly controlled congenital hypothyroidism due to an underlying Allgrove syndrome
van Tellingen, V., Finken, M. J. J., Israëls, J., Hendriks, Y. M. C., Kamp, G. A., & van Santen, H. M. (2016) · Hormone Research in Paediatrics · doi:10.1159/000446604 · Cited by 5 · see citing works
- Authors
- Allgrove, J., Clayden, G. S., Grant, D. B., & Macaulay, J. C.
- Affiliations
- Great Ormond Street Hospital (GB)
- Royal Shrewsbury Hospital (GB)
- Venue
- The Lancet
- Publisher
- Elsevier BV
- Published
- 1978-06
- Volume
- 311
- Issue
- 8077
- Pages
- 1284-1286
- ISSN
- 0099-5355 (ISSN-L)
- 0140-6736
- OpenAlex
- W2026273928
- Cited by
- 448
- References
- 9
- Citations by year
- 2026: 14 · 2025: 9 · 2024: 8 · 2023: 16 · 2022: 16 · 2021: 20 · 2020: 22 · 2019: 9 · 2018: 20 · 2017: 12 · 2016: 21 · 2015: 16 · 2014: 12 · 2013: 12 · 2012: 17
- FWCI
- 1.61
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Lancet (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Gastroenterology › Gastroesophageal reflux and treatments
- Life Sciences › Immunology and Microbiology › Immunology › Immunodeficiency and Autoimmune Disorders
- Keywords
- familial glucocorticoid deficiency, achalasia, adrenal insufficiency, autonomic dysfunction, siblings, familial disorder, glucocorticoid resistance
- MeSH terms
- Adrenal Cortex Function Tests, Adrenal Insufficiency, Child, Child, Preschool, Esophageal Achalasia, Female, Humans, Hydrocortisone, Lacrimal Apparatus Diseases, Male, Syndrome, Tears
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