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