Rawat Aditi, Karotkar Sagar, Lakra Mahaveer, Reddy Ravi, Meshram Revatdhamma, Taksande Amar
Department of Neonatology, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Department of Pediatrics, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Aug 3;16(8):e66080. doi: 10.7759/cureus.66080. eCollection 2024 Aug.
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.
先天性类脂质性肾上腺增生是肾上腺功能不全的一种非常罕见且严重的病因。它是由于类固醇生成急性调节蛋白（StAR）发生突变，破坏了肾上腺类固醇生物合成所致。在此，我们报告一例三周大的女婴，她出现呕吐、生长发育迟缓、电解质失衡和全身色素沉着。激素检测和基因诊断证实了StAR蛋白存在突变，导致肾上腺功能不全。适当的替代治疗使临床和生化异常得到缓解。报告此病例是因其罕见的病因和诊断线索。它可指导临床医生在出现色素沉着和电解质紊乱的新生儿中将肾上腺功能不全作为鉴别诊断，以挽救生命。
