Johnsen Pål Steinmo, Madsen Martin, Nyland Anja Nilsen, Al-Shibli Khalid, Frid Paula
Department of Otorhinolaryngology, Division of Oral and Maxillofacial Surgery, Nordland Hospital Trust, Bodø 8092, Norway.
Department of Clinical Dentistry, UiT the Arctic University of Norway, Tromsø 9019, Norway.
JCEM Case Rep. 2025 Mar 20;3(4):luaf049. doi: 10.1210/jcemcr/luaf049. eCollection 2025 Apr.
Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a hereditary neoplastic disorder caused by a pathogenic variant in the tumor suppressor gene. It is characterized by increased values of PTH, ossifying fibromas of the jaws, and in some cases neoplasms of the kidneys/or the uterus. We present a case of a 65-year-old male who had several jaw tumors with secondary infection requiring treatment. Previous medical history included parathyroid adenomas with a long history of increased PTH and kidney tumor. This prompted genetic testing, which confirmed a heterozygous pathogenic variant, establishing the diagnosis of HPT-JT. The jaw tumor was excised. The patient was referred to genetic counselling but declined.
甲状旁腺功能亢进-颌骨肿瘤综合征(HPT-JT)是一种由肿瘤抑制基因的致病性变异引起的遗传性肿瘤疾病。其特征是甲状旁腺激素(PTH)值升高、颌骨骨化性纤维瘤,在某些情况下还伴有肾脏/或子宫肿瘤。我们报告一例65岁男性病例,该患者有多个颌骨肿瘤并伴有继发感染需要治疗。既往病史包括甲状旁腺腺瘤,有长期PTH升高和肾肿瘤病史。这促使进行基因检测,结果证实存在杂合致病性变异,从而确诊为HPT-JT。切除了颌骨肿瘤。患者被转介至遗传咨询,但拒绝了。