Work

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

Year: 2026

Type: article

Abstract: Cushing disease is the most common form of endogenous hypercortisolism and can be associated with familial endocrine syndromes, including multiple endocrine neoplasia type 4 (MEN4). We report a case of a father and daughter who both presented with Cushing disease and were found to have the same variant of unknown significance in the CDKN1B 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.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luag130

Authors: Stephanie Gambino, Akanksha Aggarwal, Jerry Vockley, Pouneh K Fazeli

Institutions: University of Pittsburgh, University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh

Language: English

Topic: Pituitary Gland Disorders and Treatments

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930