ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2019) 63 P490 | DOI: 10.1530/endoabs.63.P490

Hyperparathyroidism - jaw tumor syndrome - differential diagnostic traps

Mirela Claudia Nechita1, Anca Georgiana Tudurean-Olteanu1, Victor Vlad Costan2, Radu Danila2, Cristina Preda1 & Maria Christina Ungureanu1

1Endocrinology Clinic, ‘Saint Spiridon’ Clinical Emergency Hospital, Iasi, Romania; 2‘Grigore T. Popa’ University of Medicine and Pharmacy, Iasi, Romania.

Introduction: Hyperparathyroidism-Jaw Tumor (HPT-JT) syndrome is a rare genetic disorder bearing a germline and a somatic CDC73 mutation. The features of HPT-JT are clinically difficult to ascertain because the parathyroid disease, ossifying fibroma in the jaw and other abnormalities, often occurs asynchronously and may be diagnosed and treated separately. The association of jaw ossifying fibroma with primary hyperparathyroidism (PHPT) is typical of HPT-JT.

Case report: V.D., a patient of 18 years old, childbearing confinement after birth, is hospitalized for a newly installed tumor located in the higher buccal vestibule, relatively well-defined, elastic, painless, with the deformation of the right genian region; it was observed five months ago, with volume increases during pregnancy. Morphological features correspond to a central granuloma giant cells. The blood tests reveal calcium and parathormone over the upper limit. The patient was operated in two times for a right parathyroid adenoma at the posterior thyroid pole and respectively for a left inferior parathyroid adenoma. A genetic examination was performed, but the HRPT2 gene could not be dosed. The phospho-calcic profile improved postoperatively, with diminished jaw tumor size and consistency. The diagnosis between brown tumor and jaw tumor syndrome is difficult to achieve; no anatomopathological elements were suggesting parathyroid cancer and also the CDC 73 gene may be absent in some patients. Young patient’s age at diagnosis, recurrent parathyroid and jaw lesions should rise the possibility of HPT-JT syndrome. In January 2019, the patient is getting pregnant again; she is hospitalized in our clinic for an aggressive increase in the jaw tumor, at 12 weeks of pregnancy. There are no data in the literature about the increased risk of hyperparathyroidism or jaw tumor relapse during pregnancy, and therapeutic abortion is not recommended. The existence of estrogen or progesterone receptors at the maxillary tumor level was infirmed. Clinically and biologically there are no inflammation markers or inflammation signs, and phosphor-calcic balance is reasonable. Subsequently, in one week a dental abscess was diagnosed and treated at the jaw tumor level.

Conclusions: Clinical evolution, pathological history of hyperparathyroidism may be trapped in the differential diagnosis, and require increased attention, additional investigations to make the right medical decision.

Keywords: primary hyperparathyroidism, maxillar tumor, parathyroid adenoma

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