High-resolution (10-MHz) ultrasonography was performed in 181 patients with primary or secondary hyperparathyroidism during a 4-year period and evaluated retrospectively. Thirty-seven unusual-appearing parathyroid tumors were found among 235 parathyroid glands identified as abnormal. There was pathologic correlation in 36. The typical appearance of parathyroid adenoma was that of an oval hypoechoic or anechoic lesion in the neck, aligned in a craniocaudal direction and often posterior to the thyroid. Morphologic variations from the norm included giant size (n = 11) (4.6%), cystic changes in a solid tumor (n = 9) (3.8%), calcified glands (n = 6[in three patients]) (2.5%), a multilobulated configuration (n = 5) (2.1%), an inhomogeneous pattern (n = 5) (2.1%), and a parathyroid cyst (n = 1) (0.4%). Recognizing the abnormal parathyroid variants can increase the diagnostic accuracy of sonographic examination.
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http://dx.doi.org/10.1148/radiology.165.1.3306784 | DOI Listing |
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFBMC Rheumatol
January 2025
Rheumatology Department, Al-Azhar University Faculty of Medicine for Girls, 74 Ali Amin St, Nasr City, PO 11727, Cairo, Egypt.
Background: Fibromyalgia Syndrome (FMS) is a chronic disabling musculoskeletal condition of unknown aetiology characterized by generalized musculoskeletal pain, extreme fatigue, mood disturbance, impaired cognition, and lack of refreshing sleep. Middle East pain syndrome (MEPS) is a newly described pollution-induced syndrome of hyperparathyroidism and fibromyalgia mimicking rheumatoid arthritis, characterized by the radiological presence of spur-like excrescences in terminal phalanges. This study aimed to explore the inflammatory nature of Middle East pain and Fibromyalgia syndromes.
View Article and Find Full Text PDFJ Clin Densitom
December 2024
New Mexico Clinical Research & Osteoporosis Center, Albuquerque, NM, United States. Electronic address:
Bone Health ECHO (Extension of Community Healthcare Outcomes) is a growing family of online educational programs. Its mission is to enhance delivery of best practice skeletal healthcare worldwide. Each program typically consists of a didactic lecture and discussion of clinical cases with diagnostic and treatment dilemmas.
View Article and Find Full Text PDFClin Pediatr Endocrinol
January 2025
Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.
Idiopathic infantile hypercalcemia (IIH) is characterized by hypercalcemia, nephrocalcinosis, vomiting, dehydration, and failure to thrive. It is caused by the presence of biallelic loss-of-function variants in the locus. Although hypercalcemia has been linked to the consumption of vitamin D-fortified milk, no reports have documented its role in triggering IIH in patients with variants.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
Metabolic Diseases Branch, Bldg. 10/Rm 8C-101, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892.
Establishing genotype-phenotype correlations in disorders of hereditary endocrine neoplasia is important for clinical screening, genetic counseling, prognostication, surveillance, and surgical strategy, and may also provide clues about disease pathogenesis. Important genotype-phenotype correlations are recognized, for example, in pheochromocytoma/paraganglioma and multiple endocrine neoplasia type 2A. The presence of such correlations has been less clear in other familial endocrine disorders associated with primary hyperparathyroidism including multiple endocrine neoplasia type 1 (MEN1), and the hyperparathyroidism-jaw tumor syndrome (HPT-JT).
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