A 13-year-old boy with homozygous beta-thalassemia who developed clinically manifest and biochemically proven hypoparathyroidism is described. The latter disease was attributed to hemosiderosis. Laboratory abnormalities were corrected after 1 alpha-hydroxy-vitamin D3 was administered.
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Ann Endocrinol (Paris)
January 2025
Department of Endocrinology, Diabetes and Metabolic Diseases, Angers University Hospital, Reference Center for Rare Thyroid and Hormone Receptor Diseases, 49933 Angers cedex 09, France; Univ Angers, Inserm, CNRS, MITOVASC, Equipe CarMe, SFR ICAT, F-49000 Angers, France. Electronic address:
Primary hyperparathyroidism is treated surgically. Postoperatively, close monitoring of blood calcium levels is necessary to detect any hypocalcemia. Postoperative PTH assays can be performed within 24 hours to identify patients who will not develop permanent hypoparathyroidism.
View Article and Find Full Text PDFJ Oral Biol Craniofac Res
December 2024
Division of Oral Radiology, School of Dentistry, Federal University of Ceará, Fortaleza, Ceará, Brazil.
Purpose: This study aimed to assess the styloid process (TBSP) phenotype and to identify suggestive images of calcified atheromatous plaques (CAP) in panoramic radiographs of patients with primary hyperparathyroidism (PHPT) and post-surgical hypoparathyroidism (hypoPT). Additionally, it aimed to analyze the association between the bone mineral status of patients with parathyroid diseases and the radiographic findings.
Material And Methods: A cross-sectional case-control study was conducted with individuals diagnosed with PHPT (n = 25) and post-surgical hypoPT (n = 25).
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 PDFFahr's syndrome is a rare neurological disorder that shows up as calcium deposits in the brain, affecting motor control and cognitive functions. In this case report, a 45-year-old woman with schizophrenia was diagnosed with Fahr's syndrome, which can be challenging to diagnose due to coexisting neurological comorbidity.
View Article and Find Full Text PDFKidney Med
January 2025
Department of Neurology, Damascus University-Faculty of Medicine, Damascus, Syria, MA.
A 50-year-old woman with kidney failure complained of back pain and an inability to walk. The medical history included hypothyroidism, nephrolithiasis, and resistant anemia aligned with several transfusions. The examination showed hepatosplenomegaly, lower limb weakness, absence of reflexes, and lack of sensations with a sensory level T6.
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