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Biting off more than you can chew: a rare case of hyperparathyroidism jaw tumour syndrome.
Oxf Med Case Reports
January 2025
Consultant Nephrologist-Department of Nephrology and Transplantation, Fiona Stanley Hospital, Perth, WA, Australia.
Hyperparathyroidism Jaw Tumour Syndrome (HPT-JT) is a rare autosomal dominant disorder within the familial hyperparathyroidism group. Individuals with the disorder carry a gene mutation that predisposes them to early-onset primary hyperparathyroidism, ossifying jaw tumours, renal cystic disease, uterine tumours and parathyroid carcinomas. We present a case of a 41-year-old man referred to nephrology clinic with haemoproteinuria who was noted to have the constellation of renal cystic disease, personal and family history of hyperparathyroidism and recent jaw tumour excision.
View Article and Find Full Text PDFCase report: Prolonged and severe hungry bone syndrome after parathyroidectomy in X-linked hypophosphatemia.
Front Endocrinol (Lausanne)
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
Tertiary hyperparathyroidism is characterized by hypercalcemia resulting from autonomous parathyroid hormone production and usually occurs after a prolonged period of secondary hyperparathyroidism. This condition can be a complication of X-linked hypophosphatemia (XLH), a rare genetic disease characterized by renal phosphate loss and consequent hypophosphatemia. Parathyroidectomy is considered the first-line therapy but surgical intervention can be complicated by hungry bone syndrome.
View Article and Find Full Text PDFChapter 0: Introduction to the Consensus on Primary Hyperparathyroidism from the French Society of Endocrinology, French Association of Endocrine Surgery and French Society of Nuclear Medicine.
Ann Endocrinol (Paris)
January 2025
Department of Surgery (CVMC), Unit of Endocrine and Metabolic Surgery, University of Lorraine, CHU Nancy-Hospital Brabois Adultes, Nancy, France.
This consensus on primary hyperparathyroidism, drawn up under the aegises of the French Society of Endocrinology (SFE), French Association of Endocrine Surgery (AFCE) and French Society of Nuclear Medicine (SFMN), provides an update on positive, etiological and differential diagnosis and treatment in primary hyperparathyroidism. These recommendations take account of recent increase in the prevalence of primary hyperparathyroidism, due to 1. more systematic routine measurement of blood calcium and improved quality of parathyroid hormone assays, 2.
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 de Lille, 1, rue Polonovski, 59037 Lille cedex, France; Inserm U1190, institut génomique européen pour le diabète, université de Lille, 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 PDFChapter 3: IMPACT OF PRIMARY HYPERPARATHYROIDISM.
Ann Endocrinol (Paris)
January 2025
Hospices Civils de Lyon, Groupement Hospitalier Est, Endocrinology Federation, Lyon, France.
At present, primary hyperparathyroidism is most often discovered in an asymptomatic patient, but can sometimes be revealed by a renal or bone complications. In all cases, a full work-up is recommended, with assessment of renal function (glomerular filtration rate), 24-hour calciuria, screening for risk factors for lithiasis, and renal and urinary tract imaging (ultrasound or CT scan) to look for stones or nephrocalcinosis. Bone densitometry, with measurements of the spine, femur and radius, is the recommended reference test for demineralization.
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