A Novel Steroidogenic Acute Regulatory Protein (StAR) Mutation Causing Adrenal Insufficiency in a Neonate: A Case Report of a Rare Medical Condition.

Autor:	Rawat A; Department of Neonatology, Datta Meghe Institute of Higher Education and Research, Wardha, IND., Karotkar S; Department of Pediatrics, Datta Meghe Institute of Higher Education and Research, Wardha, IND., Lakra M; Department of Pediatrics, Datta Meghe Institute of Higher Education and Research, Wardha, IND., Reddy R; Department of Neonatology, Datta Meghe Institute of Higher Education and Research, Wardha, IND., Meshram R; Department of Pediatrics, Datta Meghe Institute of Higher Education and Research, Wardha, IND., Taksande A; Department of Pediatrics, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Aug 03; Vol. 16 (8), pp. e66080. Date of Electronic Publication: 2024 Aug 03 (Print Publication: 2024).
DOI:	10.7759/cureus.66080
Abstrakt:	Congenital lipoid adrenal hyperplasia is a very rare and severe cause of adrenal insufficiency. It occurs due to a mutation of the steroidogenic acute regulatory protein (StAR), disrupting adrenal steroid biosynthesis. Here, we report a case of a three-week-old female infant with vomiting, failure to thrive, electrolyte imbalance, and generalized hyperpigmentation. The hormonal assay and genetic diagnosis confirmed a mutation in the StAR protein, leading to adrenal insufficiency. Appropriate replacement therapy resulted in the resolution of clinical and biochemical abnormalities. This case is being reported for its rare etiology and diagnostic clues. It can guide clinicians to keep adrenal insufficiency as a differential diagnosis in a neonate presenting with hyperpigmentation and electrolyte disturbance to save lives. Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work. (Copyright © 2024, Rawat et al.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu