2026-04-05T10:46:01Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/107652025-10-24T10:44:02Zcom_2072_378070com_2072_378040col_2072_378092

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene Bravo Nieto, Daniel Arias García, Andrea García-Fernández, Alba Estela Díaz-Troyano, Noelia Giralt Arnaiz, Marina FERNANDEZ ALVAREZ, PAULA Ferrer Costa, Roser Clemente, Maria Campos-Martorell, Ariadna Addison, Malaltia d' - Diagnòstic Addison, Malaltia d' - Aspectes genètics Glàndules suprarenals - Malalties Anomalies cromosòmiques PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation DISEASES::Endocrine System Diseases::Adrenal Gland Diseases::Adrenal Insufficiency::Addison Disease::Hypoadrenocorticism, Familial Other subheadings::Other subheadings::/diagnosis FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación ENFERMEDADES::enfermedades del sistema endocrino::enfermedades de las glándulas suprarrenales::insuficiencia suprarrenal::enfermedad de Addison::insuficiencia corticosuprarrenal familiar Otros calificadores::Otros calificadores::/diagnóstico Adrenal insufficiency; Congenital adrenal hypoplasia Insuficiència suprarenal; Hipoplàsia suprarenal congènita Insuficiencia suprarrenal; Hipoplasia suprarrenal congénita 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 CYP11B2 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 NR0B1 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. 2025-10-24T10:44:02Z 2025-10-24T10:44:02Z 2024-01-08T10:43:24Z 2024-01-08T10:43:24Z 2023-06 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://hdl.handle.net/11351/10765 Advances in Laboratory Medicine;4(2) https://doi.org/10.1515/almed-2023-0018 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess De Gruyter Scientia