Stable Incidence and Increasing Prevalence of Primary Hyperparathyroidism in a Population-based Study in Scotland.

Context: Previous studies, including our own, have demonstrated a highly variable incidence of primary hyperparathyroidism (PHPT) from year to year.

Objective: We planned to provide a current estimate of the incidence and prevalence of PHPT in a community-based study.

Methods: A population-based retrospective follow-up study was conducted in Tayside (Scotland) from 2007 to 2018.

Morbidity Associated With Primary Hyperparathyroidism-A Population-based Study With a Subanalysis on Vitamin D.

Context: Primary hyperparathyroidism (PHPT) is associated with increased risk of morbidity and death, and vitamin D levels are a potentially confounding variable.

Objective: The aim of this study was to assess morbidity and mortality associated with primary hyperparathyroidism (PHPT).

Methods: In this population-based retrospective matched cohort study, data linkage of biochemistry, hospital admissions, prescribing, imaging, pathology, and deaths was used to identify patients across the region of Tayside, Scotland, who had PHPT from 1997 to 2019.

Identification of prolactin receptor variants with diverse effects on receptor signalling.

The prolactin receptor (PRLR) signals predominantly through the JAK2-STAT5 pathway regulating multiple physiological functions relating to fertility, lactation, and metabolism. However, the molecular pathology and role of PRLR mutations and signalling are incompletely defined, with progress hampered by a lack of reported disease-associated PRLR variants. To date, two common germline PRLR variants are reported to demonstrate constitutive activity, with one, Ile146Leu, overrepresented in benign breast disease, while a rare activating variant, Asn492Ile, is reported to be associated with an increased incidence of prolactinoma.

Identification of 4 New Loci Associated With Primary Hyperparathyroidism (PHPT) and a Polygenic Risk Score for PHPT.

Context: A hypothesis-free genetic association analysis has not been reported for patients with primary hyperparathyroidism (PHPT).

Objective: We aimed to investigate genetic associations with PHPT using both genome-wide association study (GWAS) and candidate gene approaches.

Methods: A cross-sectional study was conducted among patients of European White ethnicity recruited in Tayside (Scotland, UK).

Approach to the patient with a variant of uncertain significance on genetic testing.

Establishing a genetic diagnosis may lead to major health benefits for the patient and their wider family, but is dependent on the accurate interpretation of test results. The processes of variant interpretation are by their nature imprecise such that the potential for uncertain test results (i.e.