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Cited by 51Adrenal Hormones and DisordersMetabolism and Genetic DisordersAdrenal and Paraganglionic Tumors

A form of lipoidosis of the adrenal cortex in an infant

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Sandison, A. T.·1955·Archives of Disease in Childhood
DOI 10.1136/adc.30.154.538PMC PMC2011836
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Crossref · 10.1136/adc.30.154.538

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  • Lipoid CAH is the most severe genetic disorder of steroidogenesis, characterized by the absence of significant concentrations of all steroids, high basal ACTH and plasma renin activity, an absent steroidal response to long-term treatment with high doses of ACTH or hCG, and grossly enlarged adrenals laden with cholesterol and cholesterol esters.

    “Lipoid CAH is the most severe genetic disorder of steroidogenesis, characterized by the absence of significant concentrations of all steroids, high basal ACTH and plasma renin activity, an absent steroidal response to longterm treatment with high doses of ACTH or human cho-rionic gonadotropin (hCG), and grossly enlarged adrenals laden with cholesterol and cholesterol esters (94 -97).”

    From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [94]

    The case report (pp. 538–539) describes enlarged adrenals with cholesterol crystal clefts, and the chemical analysis (p. 540) reports increased cortical sterol. It does not establish a genetic disorder or its relative severity; the case report explicitly says no hormone assays were made, and it reports no ACTH or hCG response testing. (LLM, conf=0.88)

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Authors
Sandison, A. T.
Affiliations
Royal Hospital for Children (GB)
Corresponding author
Sandison, A. T.
Venue
Archives of Disease in Childhood
Publisher
BMJ
Published
1955-12-01
Volume
30
Issue
154
Pages
538-541
ISSN
  • 0003-9888 (ISSN-L)
  • 1468-2044
DOI
10.1136/adc.30.154.538
PMC
PMC2011836
OpenAlex
W2014374420
Semantic Scholar
0b63ff0447949465729597ba1fc22fee5137e8f3
Cited by
51
References
20
Citations by year
2025: 2 · 2024: 1 · 2023: 1 · 2022: 2 · 2020: 2 · 2018: 1 · 2016: 1 · 2015: 1 · 2014: 3 · 2013: 2 · 2012: 1
FWCI
0.74
Type
journal article
Language
en
Open access
Locations
  • Archives of Disease in Childhood (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
Keywords
lipoidosis, adrenal cortex, infants, adrenal disorders
MeSH terms
Adrenal Cortex, Adrenal Cortex Diseases, Humans, Infant, Lipidoses

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