Familial Isolated Hyperparathyroidism Latest Advances

Genetic or familiar forms of primary hyperparathyroidism: description of a case series with familial isolated hyperparathyroidism and review of the literature.

Journal: Archives of endocrinology and metabolism

Published: September 02, 2025

Heritable hyperparathyroidism: Genetic insights and clinical implications.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: March 08, 2025

Congenital primary hyperparathyroidism.

Journal: Best practice & research. Clinical endocrinology & metabolism

Published: February 12, 2025

Chapter 5: The roles of genetics in primary hyperparathyroidism.

Journal: Annales d'endocrinologie

Published: January 16, 2025

Clinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series.

Journal: Annales d'endocrinologie

Published: December 30, 2024

Assessment of bone status and bone turnover in pediatric patients with familiar hypomagnesemia with hypercalciuria and nephrocalcinosis.

Journal: Scientific reports

Published: November 11, 2024

Endocrine Perspective of Cutaneous Lichen Amyloidosis: RET-C634 Pathogenic Variant in Multiple Endocrine Neoplasia Type 2.

Journal: Clinics and practice

Published: October 02, 2024

Importance of Hypomagnesemia in Primary Hyperparathyroidism: A Turkish Nationwide Retrospective Cohort Study.

Journal: Biological trace element research

Published: August 17, 2024

CDC73 c.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.

Journal: JBMR plus

Published: April 27, 2024

Familial states of primary hyperparathyroidism: an update.

Journal: Journal of endocrinological investigation

Published: October 25, 2023

Genetics of hereditary forms of primary hyperparathyroidism.

Journal: Hormones (Athens, Greece)

Published: October 04, 2023

Beyond MEN1, When to Think About MEN4? Retrospective Study on 5600 Patients in the French Population and Literature Review.

Journal: The Journal of clinical endocrinology and metabolism

Published: September 11, 2023