Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
-
Meenal Garg
,
Vasundhara Chugh
Abstract
Introduction
Primary adrenal insufficiency is a potentially life-threatening condition that can have many underlying causes. Mutations in the steroidogenic acute regulatory protein (StAR) gene produce lipoid congenital adrenal hyperplasia (LCAH) which usually presents in the infantile period with severe symptoms of adrenal insufficiency. Less commonly, a non-classical form is identified which may present at a later age in affected individuals. Till date, around 30 individuals with the non-classical form have been described.
Case presentation
We describe a 4-year-old 46, XX Indian girl who presented with hypoglycemic seizures and was subsequently diagnosed as non-classical LCAH on genetic analysis, with homozygous R188C mutation in the StAR gene.
Conclusions
StAR mutations may have a variety of clinical presentations and are likely under-diagnosed. Genetic diagnosis is important for treatment as well as monitoring of reproductive function.
Research funding: None
Author contributions: MG: data acquisition and initial draft preparation; MG, VC: literature search, manuscript editing; All authors were involved in patient care and manuscript revision.
Competing interests: None
Informed consent: This paper is a descriptive case report. Written informed consent was obtained from the patient’s guardians for publication of this report. A copy of the written consent is available for review by the Editor of this journal.
Ethical approval: Approval was obtained from the Ethics Committee of the hospital for publication.
References
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- Frontmatter
- Review Article
- The influence of growth hormone therapy on the cardiovascular system in Turner syndrome
- Original Articles
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- Sclerostin and osteoprotegerin: new markers of chronic kidney disease mediated mineral and bone disease in children
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- Frequency of thyroid dysfunction in pediatric patients with congenital heart disease exposed to iodinated contrast media – a long-term observational study
- Effect of growth hormone therapy on thyroid function in isolated growth hormone deficient and short small for gestational age children: a two-year study, including on assessment of the usefulness of the thyrotropin-releasing hormone (TRH) stimulation test
- Clinical relevance of T lymphocyte subsets in pediatric Graves’ disease
- Long-term follow-up of differentiated thyroid carcinoma in children and adolescents
- A quality improvement project for managing hypocalcemia after pediatric total thyroidectomy
- Pubertal development and adult height in patients with congenital hypothyroidism detected by neonatal screening in southern Brazil
- Clinical characteristics, surgical approach, BRAFV600E mutation and sodium iodine symporter expression in pediatric patients with thyroid carcinoma
- BRAFV600E and TERT promoter mutations in paediatric and young adult papillary thyroid cancer and clinicopathological correlation
- Case Reports
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- Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures
