[HTML][HTML] Hereditary hyperparathyroidism—a consensus report of the European Society of Endocrine Surgeons (ESES)

M Iacobone, B Carnaille, FF Palazzo… - Langenbeck's archives of …, 2015 - Springer
Background Hereditary hyperparathyroidism has been reported to occur in 5–10% of cases
of primary hyperparathyroidism in the context of multiple endocrine neoplasia (MEN) types …

Molecular and clinical spectrum of primary hyperparathyroidism

S Jha, WF Simonds - Endocrine Reviews, 2023 - academic.oup.com
Recent data suggest an increase in the overall incidence of parathyroid disorders, with
primary hyperparathyroidism (PHPT) being the most prevalent parathyroid disorder. PHPT is …

Molecular genetics of syndromic and non‐syndromic forms of parathyroid carcinoma

L Cardoso, M Stevenson, RV Thakker - Human mutation, 2017 - Wiley Online Library
Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an
isolated (ie, non‐syndromic) non‐hereditary (ie, sporadic) endocrinopathy. Studies of …

Clinical features, treatment, and surveillance of hyperparathyroidism‐jaw tumor syndrome: an up‐to‐date and review of the literature

F Torresan, M Iacobone - International Journal of …, 2019 - Wiley Online Library
Hyperparathyroidism‐jaw tumor (HPT‐JT) syndrome is an autosomal dominant disorder
characterized by parathyroid tumors in association with fibro‐osseous jaw tumors and …

Frequent Large Germline HRPT2 Deletions in a French National Cohort of Patients With Primary Hyperparathyroidism

L Bricaire, MF Odou, C Cardot-Bauters… - The Journal of …, 2013 - academic.oup.com
Context: Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an autosomal dominant
syndrome with incomplete penetrance that can associate in a single patient parathyroid …

[HTML][HTML] Diagnosis and management of parathyroid cancer

KM Schulte, N Talat - Nature Reviews Endocrinology, 2012 - nature.com
Parathyroid cancer is rare, but often fatal, as preoperative identification of malignancy
against the backdrop of benign parathyroid disease is challenging. Advanced genetic …

Molecular genetic insights into sporadic primary hyperparathyroidism

K Brewer, J Costa-Guda… - Endocrine-Related …, 2019 - erc.bioscientifica.com
Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by
dysregulation of parathyroid hormone release. The large majority of PHPT cases are …

Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors

J Costa-Guda, A Arnold - Molecular and cellular endocrinology, 2014 - Elsevier
Parathyroid neoplasia is most commonly due to benign parathyroid adenoma but rarely can
be caused by malignant parathyroid carcinoma. Evidence suggests that parathyroid …

Familial hyperparathyroidism

JE Blau, WF Simonds - Frontiers in endocrinology, 2021 - frontiersin.org
Regulation of the serum calcium level in humans is achieved by the endocrine action of
parathyroid glands working in concert with vitamin D and a set of critical target cells and …

[HTML][HTML] Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A …

F Marini, L Cianferotti, F Giusti… - Clinical Cases in Mineral …, 2017 - ncbi.nlm.nih.gov
Primary hyperparathyroidism (PHPT) is one of the most frequent endocrine disease in
developed countries. It mainly occurs as sporadic cases (about 90–95% of cases), while …