Familial Hypocalciuric Hypercalcemia Across Three Generations: Exploring Coexistent Primary Hyperparathyroidism

Authors

Liada Itzel Guerrero Arroyo MD, Yale New Haven Health/Bridgeport Hospital
Anda Raluca Gonciuela MD, Yale New Haven Health Northeast Medical Group
Sachin Majumdar MD, Yale School of Medicine

Document Type

Conference Proceeding

Publication Title

Endocrine Society, ENDO 2025

Abstract

FHH due to CASR R220W variant may present with phenotypic variability, including features classically associated with PHPT. Genetic testing is essential in ambiguous cases to avoid unnecessary surgical interventions.

Publication Date

Summer 2025

Recommended Citation

Guerrero Arroyo, Liada Itzel MD; Gonciuela, Anda Raluca MD; and Majumdar, Sachin MD, "Familial Hypocalciuric Hypercalcemia Across Three Generations: Exploring Coexistent Primary Hyperparathyroidism" (2025). Posters. 111.
https://scholar.bridgeporthospital.org/poster_presentations/111