Endocrine hypertension: When and how to screen for a genetic cause

Aims: Hypertension affects more than one billion adults worldwide, and secondary causes account for approximately 10–15% of cases. Endocrine hypertension is particularly relevant because it is a potentially curable form of secondary hypertension, however, its hereditary and monogenic causes remain under-recognized. This review aims to provide a practical, phenotype-first approach to genetic screening in endocrine hypertension, focusing on situations in which molecular diagnosis can change treatment, surveillance and family counselling.
Methods: A structured narrative review was conducted using PubMed/MEDLINE, Google Scholar, Semantic Scholar, ScienceDirect and the Cochrane Library, covering peer-reviewed English and French publications from January 1992 to June 2026, with emphasis on 2016–2026. MeSH terms and free-text keywords combined endocrine hypertension phenotypes with genetic descriptors. Guidelines, consensus statements, original studies, reviews, case series and selected informative case reports were included, while non-genetic, duplicate, non-peer-reviewed, animal or in vitro-only studies were excluded. Evidence was synthesized using a phenotype-first clinical approach.
Results: Genetic screening should be guided by age at onset, family history, biochemical profile, tumor multiplicity or bilaterality, recurrence, and syndromic features. Multi-gene next-generation sequencing panels are now central to diagnosis but should be selected according to the endocrine phenotype and complemented, when needed, by copy-number analysis, MLPA, long-range PCR, array-CGH or tumor sequencing. Interpretation requires caution because variants of uncertain significance, incomplete penetrance, parent-of-origin effects and mosaicism may complicate clinical decision-making.
Conclusion: Indiscriminate genetic testing is not recommended in endocrine hypertension, but timely identification of patients in whom a molecular diagnosis can guide precision treatment, long-term surveillance and rational cascade screening of relatives.