CoChat
Sign Up
Cited by 131Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Mutations in the Steroidogenic Acute Regulatory Protein (StAR) in Six Patients with Congenital Lipoid Adrenal Hyperplasia1

Bose, Himangshu S., Sato, Seiji, Aisenberg, Javier, Shalev, Stavit A., Matsuo, Nobutake, Miller, Walter L.·2000·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jcem.85.10.6896
Open this paper in CoChat — free account

Abstract

Congenital lipoid adrenal hyperplasia (lipoid CAH), the most severe form of CAH, is caused by mutations in the steroidogenic acute regulatory protein (StAR). Lipoid CAH is common among the Japanese, Korean, and Palestinian Arab populations, but is rare elsewhere. We describe six patients with lipoid CAH: four Japanese, one Palestinian, and one Guatemalan Native American. All had classical clinical presentations of normal female external genitalia in both genetic sexes, with severe glucocorticoid and mineralocorticoid deficiency presenting in the first month of life. Quite atypically, one patient had small adrenal glands shown by computed tomographic scanning. The StAR genes were characterized in all six patients. Three of the Japanese patients were compound heterozygotes for the common Japanese mutation Q258X in association with three different novel frameshift mutations; the fourth Japanese patient was homozygous for the mutation R182L, which is common among Palestinian patients but has not been described previously in a Japanese patient. Our Palestinian and Native American patients were each homozygous for novel frameshift mutations. Thus we have found five new frameshift mutations, but no new amino acid replacement (missense) mutations. This would be consistent with the view that only a small number of residues in the StAR protein are crucial for biological activity. The tomographic finding of small adrenals in a patient with genetically proven lipoid CAH due to a StAR mut…

Integrity signals

Registry

Crossref · 10.1210/jcem.85.10.6896

Cites

7 of 7 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Lipoid CAH has been reported in most ethnic groups but is common among the Japanese, Korean, and Palestinian Arab populations.

    “Lipoid CAH has been reported in most ethnic groups but is common among the Japanese, Korean, and Palestinian Arab populations1,3,4,10,11,13,29,30,31,32).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [32]

  • Although a small number of patients with StAR mutations have normal-sized adrenal glands, this may be useful to distinguish these disorders.

    “Although a small number of patients with StAR mutations have normal-sized adrenal glands14,32), this may be useful to distinguish these disorders.”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [32]

  • Most patients with lipoid CAH have massive adrenal enlargement; however, small adrenal glands have rarely been reported in classic lipoid CAH.

    “Most patients with lipoid CAH have massive adrenal enlargement; however, small adrenal glands have rarely been reported in classic lipoid CAH32).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [32]

  • Lipoid CAH is common in Japan and Korea.

    “Lipoid CAH is the most fatal form of CAH and is common in Japan and Korea.”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [32]

Cites

Flagged first, then by citations

Cited by

Sorted by citations

Authors
Bose, H. S., Sato, S., Aisenberg, J., Shalev, S. A., Matsuo, N., & Miller, W. L.
Affiliations
  • University of California, San Francisco (US)
  • Keio University (JP)
  • Hackensack University Medical Center (US)
  • Emek Medical Center (IL)
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2000-10
Volume
85
Issue
10
Pages
3636-3639
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jcem.85.10.6896
OpenAlex
W2125532894
Cited by
131
References
7
Citations by year
2026: 1 · 2025: 2 · 2024: 7 · 2023: 5 · 2022: 3 · 2021: 3 · 2020: 3 · 2019: 2 · 2018: 3 · 2017: 7 · 2016: 8 · 2015: 4 · 2014: 7 · 2013: 6 · 2012: 3
FWCI
1.45
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • National Institutes of Health (5r01dk042154-09)
  • National Institute of Diabetes and Digestive and Kidney Diseases (DK-37922, DK 42154, R01DK037922)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD-34449, U54HD034449)
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 lipoid adrenal hyperplasia, steroidogenic acute regulatory protein, frameshift mutation, compound heterozygosity, glucocorticoid deficiency, mineralocorticoid deficiency, adrenal hypoplasia, Japanese patients, Palestinian patients, Native American patients, novel mutations
MeSH terms
Steroidogenic Acute Regulatory Protein, Adrenal Hyperplasia, Congenital, Adult, Alleles, Amino Acids, Exons, Female, Guatemala, Humans, Infant, Japan, Karyotyping, Lipids, Mutation, Phosphoproteins, Arabs, Reverse Transcriptase Polymerase Chain Reaction, Lipid Metabolism

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review