MEN4 variant of unknown significance in two generations of patients presenting with Cushing disease

gene (c.280 C>T, p.P94S), the gene responsible for MEN4. They were treated surgically and are in remission from Cushing disease. This case raises the possibility that the variant could be pathogenic, despite in silico predictions to the contrary.

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Publication Details

Journal
JCEM Case Reports
Published
2026-04-21
DOI
https://doi.org/10.1210/jcemcr/luag130
Primary Topic
Pituitary Gland Disorders and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

MEN4 variant of unknown significance in two generations of patients presenting with Cushing disease

Stephanie Gambino, Akanksha Aggarwal, Pouneh K Fazeli, Jerry Vockley
JCEM Case Reports
Pituitary Gland Disorders and Treatments
article

MEN4 variant of unknown significance in two generations of patients presenting with Cushing disease

Stephanie Gambino, Akanksha Aggarwal, Pouneh K Fazeli, Jerry Vockley
article en

Abstract

gene (c.280 C>T, p.P94S), the gene responsible for MEN4. They were treated surgically and are in remission from Cushing disease. This case raises the possibility that the variant could be pathogenic, despite in silico predictions to the contrary.

JCEM Case ReportsVol. 4(6)
Children's Hospital of Pittsburgh (US), University of Pittsburgh Medical Center (US)
Openalex Percentile: Top 7%
Pituitary Gland Disorders and Treatments
DOIOpen Access PDFOpenAlex
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