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Patient with adrenal insufficiency due to a mutation in the gene. | LitMetric

AI Article Synopsis

  • Congenital X-linked adrenal hypoplasia is a rare genetic disorder marked by adrenal insufficiency and other varied clinical symptoms.
  • A case of a 26-day-old male newborn showed signs of adrenal insufficiency, which prompted hormone testing that revealed elevated ACTH and low aldosterone levels, while tests for other conditions were normal.
  • The diagnosis of congenital adrenal hypoplasia was confirmed through expanded genetic testing after detecting cortisol deficiency, highlighting the complexity and need for thorough investigation in such cases.

Article Abstract

Objectives: Congenital X-linked adrenal hypoplasia is a rare disease with a known genetic basis characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and a wide variety of clinical manifestations.

Case Presentation: We present the case of a 26-day old male newborn with symptoms consistent with adrenal insufficiency, hyponatremia, and hyperkalemia. Following NaCl and fludrocortisone supplementation, the patient remained clinically stable. 17-OH-progesterone testing excluded congenital adrenal hyperplasia. The rest of hormones were within normal limits, except for adrenocorticotropic hormone (ACTH), which was significantly elevated, and aldosterone, which was below the reference value. Further testing included very long chain fatty acids to exclude adrenoleukodystrophy, the gene (aldosterone synthase), and an MRI to screen for other morphological abnormalities. All tests yielded normal results. Finally, after cortisol deficiency was detected, expanded genetic testing revealed a mutation in the gene, which led to a diagnosis of congenital adrenal hypoplasia.

Conclusions: Diagnosis of congenital adrenal hypoplasia is challenging due to the heterogeneity of both clinical manifestations and laboratory abnormalities. As a result, diagnosis requires close monitoring and genetic testing.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10701479PMC
http://dx.doi.org/10.1515/almed-2023-0018DOI Listing

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