MINI REVIEW article
Front. Endocrinol.
Sec. Systems Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1582112
This article is part of the Research TopicComorbidities of adrenal-related endocrine disordersView all 11 articles
Case Report: Atypical Endocrine Manifestations in Gordon Syndrome Caused by CUL3 Mutation
Provisionally accepted
- 1Xi'an Jiaotong University, Xi'an, China
- 2Department of Endocrinology, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, China
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Background: Gordon syndrome (Pseudohypoaldosteronism type II) is a rare genetic disorder characterized by hyperkalemia, hypertension, and metabolic acidosis. Mutations in the CUL3 gene are associated with more severe phenotypes, but endocrine manifestations beyond growth delay are poorly described. Case Presentation: A 22-year-old male presented with chronic hyperkalemia and hypertension, insulin resistance with steatohepatitis, and testicular hypoplasia with elevated gonadotropins. Genetic analysis revealed a de novo heterozygous CUL3 c.1207-26A>G mutation, resulting in exon 9 skipping. Treatment with hydrochlorothiazide normalized blood pressure and potassium and controlled metabolic and hormonal abnormalities, which recurred upon treatment withdrawal. Conclusion: This case suggests that some endocrine manifestations in CUL3-related Gordon syndrome may be reversible and secondary to electrolyte imbalance rather than direct genetic effects. Further studies are needed to determine their prevalence and underlying mechanisms.
Keywords: Hyperkalemia, Hypertension, Insulin Resistance, Testicular hypoplasia, Pseudohypoaldosteronism type II
Received: 23 Feb 2025; Accepted: 19 Aug 2025.
Copyright: © 2025 Fatahichegeni, Ansarian, Ranjbarha, LV and Fu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Hongjun LV, Department of Endocrinology, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China
Jiao Fu, Department of Endocrinology, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, 710061, Shaanxi, China
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