Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association
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Isabel Huguet
und
Guillermo Martínez Díaz-Guerra
Abstract
Objectives
Hypoparathyroidism (HypoPT) is a rare disorder and non-surgical cases require careful evaluation, since may be due to genetic, autoimmune, or metabolic factors.
Case presentation
We present a 15-year-old girl with a previous diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to G985A homozygous mutation. She was admitted to the emergency department with severe hypocalcaemia and inappropriately normal level of intact parathyroid hormone. Main etiologies of primary HypoPT were excluded, so it was suspected to be related to MCAD deficiency.
Conclusions
The association of fatty acid oxidation disorders and HypoPT has been previously described in the literature, but its link to MCAD deficiency has only been reported once. We present the second case describing the coexistence of both rare diseases. Since HypoPT can be a life-threatening condition, we suggest calcium levels be assessed in these patients on a regular basis. Further research is needed to better understand this complex association.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent has been obtained.
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Ethical approval: Not applicable.
References
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Artikel in diesem Heft
- Frontmatter
- Original Articles
- Comparison of internet usage and internet addiction scores in healthy children and children with type 1 diabetes mellitus
- Prevalence of nonalcoholic fatty liver disease increased with type 2 diabetes mellitus in overweight/obese youth with polycystic ovary syndrome
- Comparison of regular with NPH insulin vs. premix insulin in children and adolescents with type 1 diabetes in a resources-limited setting: a retrospective data analysis
- Comparative analyses of surrogates of metabolic syndrome in children and adolescents with metabolically healthy obesity vs. metabolically unhealthy obesity according to Damanhoury’s criteria
- Response to vitamin D replacement therapy in obese children and adolescents with vitamin D deficiency: a randomized controlled trial
- Clinical profile of Laron dwarfism – experience from a tertiary care institute in Chennai
- 10.1515/jpem-2022-0462
- Identifying elevated plasma free triiodothyronine levels: age-adapted reference intervals for pediatrics
- Benefits and risks evaluation of recombinant human growth hormone replacement therapy in children with GHD after craniopharyngioma surgery
- Copeptin levels in hospitalized infants and children with suspected vasopressin-dependent disorders: a case series
- Case Reports
- Activating calcium-sensing receptor gene variants in China: a case report of hypocalcaemia and literature review
- Hypoparathyroidism and medium-chain Acyl-CoA dehydrogenase deficiency, an unusual association
- An 11-year-old girl with Autoimmune Polyglandular Syndrome (APS) type 2: a case report and review of literature
- An exceptionally rare case of Cushing’s syndrome caused by ectopic ACTH syndrome due to olfactory neuroblastoma in childhood
