Clinical Report: Endocrine Abnormalities in Gordon Syndrome Associated with CUL3 Mutation

Overview

This case study presents a 22-year-old male with Gordon syndrome due to a CUL3 mutation, highlighting significant endocrine abnormalities including insulin resistance and testicular dysfunction. Treatment with hydrochlorothiazide led to normalization of metabolic and hormonal parameters, which relapsed upon discontinuation.

Background

Gordon syndrome, or Pseudohypoaldosteronism type II, is a rare disorder characterized by hyperkalemia and hypertension, primarily due to genetic mutations affecting renal function. CUL3 mutations are associated with more severe clinical presentations and additional systemic effects, including endocrine dysfunctions that have not been extensively documented.

Data Highlights

No numerical data was provided in the source material.

Key Findings

• A 22-year-old male with a de novo CUL3 mutation exhibited chronic hyperkalemia and hypertension.
• Endocrine manifestations included insulin resistance and testicular hypoplasia with elevated gonadotropins.
• Hydrochlorothiazide treatment normalized blood pressure and serum potassium levels.
• Metabolic and hormonal improvements were reversible upon discontinuation of thiazide therapy.

Clinical Implications

Clinicians should consider comprehensive endocrine evaluations in patients with CUL3-related Gordon syndrome.

Conclusion

This case expands the understanding of CUL3-related Gordon syndrome by documenting significant endocrine abnormalities.

Related Resources & Content

1. Frontiers in Endocrinology, 2026 -- Cushing’s syndrome and early growth hormone hypersecretion in a child with Carney complex: a case report
2. The Journal of Clinical Endocrinology & Metabolism, 2025 -- Investigation of a New NR3C1 Gene Variant: Distinguishing Glucocorticoid Resistance from Cushing's Syndrome
3. Frontiers in Endocrinology, 2026 -- Case Report: A novel likely pathogenic GCK variant in a young Chinese girl with severe insulin resistance
4. The Journal of Clinical Endocrinology & Metabolism — A Novel HADH Gene Mutation Linked to Congenital Hyperinsulinemic Hypoglycemia and Increased GLP-1 Receptor Expression in the Pancreas
5. Gordon syndrome overview
6. How to Suspect and Approach Patients With Genetic Tubular Disease
7. Atypical endocrine manifestations in Gordon syndrome caused by CUL3 mutation
8. https://www.ejcrim.com/index.php/EJCRIM/article/download/5869/4994
9. Short Stature and Response to Growth Hormone Treatment in CUL3-Related Neurodevelopmental Disorder | Hormone Research in Paediatrics | Karger Publishers