ECE2024 Eposter Presentations Calcium and Bone (102 abstracts)
Novel germline variant of CDC73 identified during screening for familial primary hyperparathyroidism
Andreea Muntean 1 , Isabel Mazarico Altisent 1 , Ismael Capel Flores 1 , Laia Casamitjana Espuña 1 , Alba Hernández Lázaro 1 , Santiago Barcons Vilaplana 2 , Xavier Guirao Garriga 2 , Neus Baena Diez 3 , Ana Romero Gregori 1 , Berta Bella Burgos 4 , Valeria Arsentales Montalva 1 , Judith Jover Gornall 1 & Mercedes Rigla Cros 1
1Endocrinology and Nutrition Department, Parc Taulí University Hospital, Institut d’Investigació i Innovació Parc Taulí (I3PT), Sabadell, Barcelona, Spain; 2Surgery Department, Parc Taulí University Hospital, Institut d’Investigació i Innovació Parc Taulí (I3PT), Sabadell, Barcelona, Spain; 3Genetic Department, Parc Taulí University Hospital, Institut d’Investigació i Innovació Parc Taulí (I3PT), Sabadell, Barcelona, Spain; 4Pathology Department, Parc Taulí University Hospital, Institut d’Investigació i Innovació Parc Taulí (I3PT), Sabadell, Barcelona, Spain
Background: Hyperparathyroidism jaw-tumor syndrome (HPT-JT) is a rare and underdiagnosed cause of familial primary hyperparathyroidism (incidence <1/1000000). It is caused by a pathogenic variant in the CDC73 (or HRPT2) gene that encodes parafibromin. Patients with HPT-JT have a 15–20% risk of developing parathyroid carcinoma. Other related conditions are jaw tumors in 30% of cases, kidney abnormalities in 15% of cases, and uterine tumors in 50% of cases.
Case report: A 21-year-old woman with bipolar disorder undergoing lithium treatment referred from psychiatry due to hypercalcemia. Primary hyperparathyroidism was diagnosed, with PTH 125 pg/ml, and Ca 11.3 mg/dl. Imaging tests located a lesion in the upper left parathyroid. Because the patient had a sister with two parathyroid adenomas, uterine polyps, and giant cell bone tumors, a genetic study (for suspicion of familial hyperparathyroidism) was conducted. The genetic study identified a heterozygous frameshift variant CDC73 c.110del, p.(Lys37Argfs*72), not previously described, classified as likely pathogenic. The patient underwent parathyroidectomy, and the pathology report defined the lesion as parathyroid adenoma. Additionally, the patient presented uterine polyps with benign characteristics, no malformations of the urinary system, and currently is awaiting a mandibular imaging study. A segregation study was performed, whereas genetic studies are pending for the remaining siblings and parents, as well as additional tests to identify conditions related to the mutation. Two siblings had primary hyperparathyroidism (diagnosed at 19 years in both cases) and underwent surgery. Pathology studies showed parathyroid adenoma in one case, and atypical parathyroid tumor in the other (this case presented with severe hypercalcemia and ECG abnormalities, which required admission into the Critical Care Unit); three siblings showed benign uterine polyps, and one sibling had giant cell bone tumors in the lower extremities. No urinary system malformations nor jaw tumors were identified so far in the family.
Conclusion: Performing a genetic screening for familial hyperparathyroidism and segregation studies in suspected cases lies in providing early diagnosis and treatment for parathyroid tumors, as well as identifying potential conditions associated with HPT-JT syndrome. These conditions may limit the functionality of patients and pose a life-threatening risk if not identified and treated promptly.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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