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Cited by 51Adrenal Hormones and DisordersSexual Differentiation and DisordersMetabolism and Genetic Disorders

Distinguishing Deficiencies in the Steroidogenic Acute Regulatory Protein and the Cholesterol Side Chain Cleavage Enzyme Causing Neonatal Adrenal Failure

Gucev, Zoran S., Tee, Meng Kian, Chitayat, David, Wherrett, Diane K., Miller, Walter L.·2013·The Journal of Pediatrics
DOI 10.1016/j.jpeds.2012.10.012
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Abstract

Objectives To determine the genetic basis of disordered steroidogenesis in Kuwaiti siblings.Study design Two siblings (46,XX and 46,XY) had normal female external genitalia and severe glucocorticoid and mineralocorticoid deficiency presenting in the first month of life. Abdominal ultrasonography showed normal size adrenal glands, suggesting cholesterol side chain cleavage enzyme (P450scc) deficiency. The CYP11A1 gene encoding P450scc and the STAR gene encoding the steroidogenic acute regulatory protein (StAR) were directly sequenced from leukocyte DNA.Results All exons and intron/exon boundaries of the CYP11A1 gene were normal; the STAR gene was homozygous for a novel 14-base deletion/frameshift in exon 4 (g.4643_4656del), so that no functional protein could be produced. Both parents and an unaffected sibling were heterozygous; zygosity was confirmed with a BsmF1 restriction fragment length polymorphism.Conclusions Unlike most patients with StAR deficiency, our patients did not have the massive adrenal hyperplasia typical of congenital lipoid adrenal hyperplasia. The distinction between StAR and P450scc deficiency may require gene sequencing.

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Crossref · 10.1016/j.jpeds.2012.10.012

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  • None of the patients with CYP11A1 mutations reported to date has had adrenal enlargement.

    “In contrast, none of the patients with CYP11A1 mutations reported to date has had adrenal enlargement36).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [36]

  • Clinical, imaging and hormonal findings alone may not distinguish between P450scc and StAR deficiency; gene sequencing is the only definitive diagnostic method.

    “Therefore, clinical, imaging and hormonal findings alone may not distinguish between P450scc and StAR deficiency; gene sequencing is the only definitive diagnostic method36).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [36]

  • Discriminating these two very similar diseases permits prenatal diagnosis and genetic counseling.

    “Discriminating these two very similar diseases permits prenatal diagnosis and genetic counseling36).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [36]

  • Clinical and laboratory findings in patients with mutations in StAR or CYP11A1 genes are essentially indistinguishable.

    “The clinical and laboratory findings in patients with mutations in the StAR or CYP11A1 genes are essentially indistinguishable”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [36]

  • Treatment for patients with mutations in StAR or CYP11A1 genes is the same: hormonal replacement therapy with physiological doses of glucocorticoids and mineralocorticoids.

    “their treatment is the same; hormonal replacement therapy with physiological doses of glucocorticoids and mineralocorticoids36).”

    From Congenital lipoid adrenal hyperplasia (2014) · cites this paper as [36]

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Authors
Gucev, Z. S., Tee, M. K., Chitayat, D., Wherrett, D. K., & Miller, W. L.
Affiliations
  • University of California, San Francisco (US)
  • Mount Sinai Hospital (CA)
  • University of Toronto (CA)
Corresponding author
Miller, Walter L.
ORCID
Venue
The Journal of Pediatrics
Publisher
Elsevier BV
Published
2013-04
Volume
162
Issue
4
Pages
819-822
ISSN
0022-3476 (ISSN-L)
DOI
10.1016/j.jpeds.2012.10.012
OpenAlex
W2012657998
Cited by
51
References
24
Citations by year
2025: 2 · 2024: 26 · 2023: 2 · 2022: 1 · 2021: 3 · 2020: 1 · 2018: 1 · 2016: 2 · 2015: 1 · 2014: 8 · 2013: 2 · 2012: 1
FWCI
3.08
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • The Journal of Pediatrics (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • European Society for Paediatric Endocrinology
  • National Institutes of Health (DK37922)
Topics
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
steroidogenic acute regulatory protein, cholesterol side-chain cleavage enzyme, congenital lipoid adrenal hyperplasia, glucocorticoid deficiency, mineralocorticoid deficiency, CYP11A1, STAR gene, frameshift deletion, zygosity, siblings, Kuwaiti patients
MeSH terms
Steroidogenic Acute Regulatory Protein, Adrenal Insufficiency, Cholesterol Side-Chain Cleavage Enzyme, DNA, Exons, Family Health, Female, Glucocorticoids, Homozygote, Humans, Infant, Newborn, Introns, Kuwait, Leukocytes, Mineralocorticoids, Models, Genetic, Mutation, Pedigree, Phosphoproteins, Polymorphism, Restriction Fragment Length

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