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SAT-LB302 From Urolithiasis to Genetic Testing: An...
Journal article

SAT-LB302 From Urolithiasis to Genetic Testing: An Unusual Presentation of MEN-4 Syndrome

Abstract

Abstract Background:Germline mutations in the CDKN1B gene are responsible for Multiple Endocrine Neoplasia Type 4 (MEN 4) syndrome (Alrezk et al. 2017). Around 20 cases have been reported to date. Here, we report on a new MEN4 family which possibly extends the phenotypic spectrum attributable to germline mutations in CDKN1B. Clinical Case: A 56-year-old female presented with urolithiasis & was found to have hypercalcemia (serum calcium of 2.76 …

Authors

Alamri BN; Palma L; Andonian S; Foulkes WD; Rivera JA

Journal

Journal of the Endocrine Society, Vol. 4, No. Suppl 1,

Publication Date

May 2020

ISSN

2472-1972

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