Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Chapter 5: THE ROLE OF GENETICS IN PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Univ. Lille, Inserm, CHU Lille, U1286 - Infinite, F-59045 Lille Cedex, Department of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France. Electronic address:
Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion.
View Article and Find Full Text PDFChapter 8: MANAGEMENT OF AGGRESSIVE FORMS OF PRIMARY HPT: PARATHYROID CARCINOMA AND ATYPICAL PARATHYROID TUMOR.
Ann Endocrinol (Paris)
January 2025
Imaging Department, Nuclear Medicine Service, Gustave Roussy, Université Paris-Saclay, F-94805, Villejuif, France.
Parathyroid carcinoma is extremely rare, affecting 1% of cases of primary hyperparathyroidism. For this reason, management is poorly codified and requires expertise in specialized center. PC is genetically determined in a quarter to a third of cases, notably involving the CDC73 gene coding for parafibromin.
View Article and Find Full Text PDFChapter 6: SYNDROMIC PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Endocrinology Department, Huriez Hospital, Lille University Hospital, France. Electronic address:
Syndromic primary hyperparathyroidism has several features in common: younger age at diagnosis when compared with sporadic primary hyperparathyroidism, often synchronous or metachronous multi-glandular involvement, higher possibility of recurrence, association with other endocrine or extra-endocrine disorders, and suggestive family background with autosomal dominant inheritance. Hyperparathyroidism in multiple endocrine neoplasia type 1 is the most common syndromic hyperparathyroidism. It is often asymptomatic in adolescents and young adults, but may be responsible for recurrent lithiasis and/or bone loss.
View Article and Find Full Text PDFChapter 13: 2022 WHO CLASSIFICATION OF PARATHYROID TUMORS.
Ann Endocrinol (Paris)
January 2025
Institute of Pathology CHU Lille, University of Lille, 59000 Lille cedex, France. Electronic address:
The latest 2022 WHO classification of the parathyroid tumors incorporates recent data on parathyroid pathophysiology, in particular from genetic sequencing. It highlights histological features potentially indicative of underlying genetic abnormalities, because of their implications for patient management. Immunohistochemical markers can help characterize parathyroid lesions and molecular screening.
View Article and Find Full Text PDFChapter 4: DIFFERENTIAL DIAGNOSIS of PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Service d'Endocrinologie, Diabétologie, Métabolisme, Nutrition; Hôpital Huriez, CHU Lille; Inserm U1190, Institut Génomique Européen pour le Diabète, Université de Lille, F-59000 Lille, France. Electronic address:
The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non- elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!