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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 PDFEndocrine Care of a 19-year-old Woman With Isolated Hypogonadotropic Hypogonadism due to 4H Syndrome.
AACE Clin Case Rep
August 2024
Department of Endocrinology, Endocrine ParaThyroid Center, Norman, Oklahoma.
Background/objective: 4H syndrome is a rare form of leukodystrophy characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. In 95% of cases, hypomyelination is present, but other clinical features, such as hypodontia and hypogonadotropic hypogonadism, are not always present and may not be necessary for diagnosis. Hypogonadotropic hypogonadism is the most common endocrine complication that can occur in 4H syndrome.
View Article and Find Full Text PDFProliferative behaviours of CD90-expressing chondrocytes under the control of the TSC1-mTOR/PTHrP-nuclear localisation segment pathway.
Osteoarthritis Cartilage
December 2024
Department of Oral Anatomy and Physiology and TMD, College of Stomatology, the Fourth Military Medical University, Xi'an, China; Department of Oral Anatomy and Physiology and TMD, Shanghai Stomatological Hospital & School of Stomatology, Fudan University, Shanghai, China. Electronic address:
Objective: Some cells in temporomandibular joint (TMJ) cartilage undergo proliferation in response to negative pressure, which can be induced in vivo by creating bilateral anterior elevation (BAE). TMJ cartilage harbours CD90-expressing cells, and CD90 expression increases under certain controlled conditions. The parathyroid hormone-related peptide (PTHrP) nuclear localisation segment (NLS) promotes chondrocyte proliferation, and mammalian target of rapamycin (mTOR) signalling plays a regulatory role in promoting PTHrP transcription.
View Article and Find Full Text PDFc.1155-3A>G is a pathogenic variant that causes aberrant splicing, disrupted parafibromin expression, and hyperparathyroidism-jaw tumor syndrome.
JBMR Plus
January 2025
Department of Medicine, Division of Endocrinology, Stanford University, Stanford, CA 94305, United States.
Germline and somatic pathogenic variants in the gene, encoding the nuclear protein parafibromin, increase the risk for parathyroid carcinoma and cause hereditary primary hyperparathyroidism (PHPT) syndromes known as familial isolated hyperparathyroidism (FIHP) and hyperparathyroidism-jaw tumor syndrome (HPT-JT). The identification of pathogenic germline variants in PHPT-susceptibility genes can influence surgical planning for parathyroidectomy, guide screening for potential syndromic manifestations, and identify/exonerate at-risk family members. Numerous types of pathogenic germline variants have been described for -related conditions, including deletion, truncating, missense, and splice site mutations.
View Article and Find Full Text PDFWindswept Deformity: A Rare Skeletal Manifestation in an Adolescent with Primary Hyperparathyroidism.
J ASEAN Fed Endocr Soc
December 2024
Department of General Medicine, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Sawangi, Wardha, Maharashtra, India.
Article Synopsis
- Primary hyperparathyroidism (PHPT) in adolescents is uncommon and typically leads to more severe symptoms than in adults, with skeletal issues being rare and mostly documented in case studies.
- A unique case is reported of a 19-year-old male with a windswept deformity, characterized by the bending of his legs at the knee, who was diagnosed with PHPT after showing elevated calcium and parathyroid hormone levels.
- After identifying and surgically removing a parathyroid adenoma, the patient's calcium and parathyroid hormone levels returned to normal, and he is now scheduled for corrective surgery once his alkaline phosphatase stabilizes.
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