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PurposeThe current primary hyperparathyroidism (PHPT) presents as a mild disease. We explored skeletal phenotypes in postmenopausal women affected by PHPT, focusing on fracture prevalence.MethodsPHPT women were retrospectively evaluated at four Italian centers for osteoporosis management (two centers in Milan, n = 244; Cuneo, n = 128; Pisa, n = 131). Data collected from clinical records were analyzed by hierarchical clusterization.ResultsConsidering the whole PHPT series [n = 503, aged 67.0 (61.0–74.0) years], 90% had low bone mineral density (BMD) and approximately 30% reported at least one fracture. Vertebral fractures were associated with older age and lower hypophosphatemia, while women with appendicular fractures were younger with less severe hypophosphatemia. Fractures were predicted by lumbar T-score. By using a clustering approach, we identified four different skeletal phenotypes (cluster, C): C1 (n = 53) and C2 (n = 172) included women with lumbar and femur neck osteopenia, with low prevalence of fractures (11.3%). Osteoporotic PHPT women were grouped into C3 (n = 142) and C4 (n = 136); all women in C4 experienced fractures, were older, and were more frequently affected with cardiovascular diseases. In contrast, women included in C3 never experienced fractures and had a lower body mass index (BMI), though they were characterized by severe reduction in BMD at both lumbar and femur sites. Ionized and total calcium, phosphate, 25hydroxyvitamin D levels, kidney function, and stone prevalence (range, 26.4%–29.0%) were similar among clusters C1, C2, and C4, while unfractured women in C3 showed slightly higher ionized hypercalcemia, lower hypophosphatemia, and higher hypercalciuria with a trend to more frequently develop kidney stones (38.7%) than women in the remaining clusters.ConclusionsSkeletal involvement in women with PHPT presented heterogeneous phenotypes with different prevalence of fractures. Fractures were not related to PHPT severity, suggesting that other factors besides PHPT, such as age, BMI, and lumbar and femur BMD, should be considered in the evaluation of bone involvement in postmenopausal women with PHPT.

BackgroundBrown tumors are rare bone manifestations of primary hyperparathyroidism (PHPT) that may occur at different sites either as single or multiple lesions and they can easily be mistaken for malignant lesions. Neither bone site nor morphological or functional imaging are useful to drive the differential diagnosis and biopsy is often the only conclusive procedure.Case descriptionWe report the case of a 53 years-old man referred to our outpatient clinic for severe symptomatic PHPT complicated by nephrolithiasis and osteoporosis. Neck ultrasound and computed tomography (CT) scan showed a large irregular lesion posterior to the lower pole of the right thyroid lobe consistent with an enlarged parathyroid gland. Moreover, two bone lytic lesions were described at the left scapula and the contiguous 7th rib that showed an increased uptake at total bone scintigraphy. Given the clinical and biochemical picture, the features of the parathyroid lesion and the presence of bone lytic lesions, the suspicion of metastatic parathyroid carcinoma (PC) was raised. However, a CT-guided biopsy performed on the left scapula revealed a brown tumor. The patient underwent en-bloc resection of the right inferior parathyroid grand with the ipsilateral thyroid gland lobe. Histopathology confirmed the diagnosis of PC. Post-surgical biochemical evaluations showed that the patient was cured. A repeated total body CT scan revealed an osteoblastic appearance of the bone lesions ascribed to the partial regression of the brown tumors following surgery.ConclusionsThe implication of a diagnosis of brown tumor or bone metastasis is widely different; in fact, the first tends to regress with the surgical treatment of PHPT, whereas the latter has limited cure option and negatively affects the prognosis of patients. Therefore, although brown tumors are extremely rarer than in the past, they must always be taken into consideration in the presence of bone lesions, even in cases of high suspicion of malignancy, to avoid unnecessary and harmful surgical interventions.

IntroductionPrimary hyperparathyroidism (PHPT) is a common endocrine disorder in which surgery is the only curative therapy. Ectopic parathyroid adenoma in the pyriform sinus resulting from a pathological migration of parathyroid glands along the embryological development is a rare cause of PHPT. We describe a case of a persistent primary hyperparathyroidism after previous unsuccessful surgery due to an ectopic parathyroid adenoma within the pyriform sinus and we review the previous reports on this issue.Case presentationA 62-year-old woman was referred for persistent hypercalcemia following unsuccessful cervical exploratory surgery. Cervical ultrasound did not detect any parathyroid abnormalities. At variance, 99mTc-sestamibi SPECT/CT and CT scan of the neck identified a parathyroid adenoma in the left pyriform sinus, which was confirmed by endoscopy. The patient was successfully treated by transoral robotic resection and the pathology confirmed a parathyroid adenoma.ConclusionsThe ectopic parathyroid adenoma in the pyriform sinus is so uncommon that only fourteen cases have been reported. However, the pyriform sinus should be considered a possible location of ectopic parathyroid glands, especially in the setting of persistent or recurrent PHPT after parathyroid surgery.

BackgroundMultiple Endocrine Neoplasia type 1 is a rare genetic syndrome mainly caused by mutations of MEN1 gene and characterized by a combination of several endocrine and non-endocrine manifestations. The objective of this study was to describe cutaneous lesions and other non-endocrine manifestations of MEN1 in a cohort of patients with familial (F) and sporadic (S) MEN1, compare the prevalence of these manifestations between the two cohorts, and investigate the correlation with MEN1 mutation status.MethodsWe collected phenotypic and genotypic data of 185 patients with F-MEN1 and S-MEN1 followed from 1997 to 2022. The associations between F-MEN1 and S-MEN1 or MEN1 mutation-positive and mutation-negative patients and non-endocrine manifestations were determined using chi-square or Fisher’s exact tests or multivariate exact logistic regression analyses.ResultsThe prevalence of angiofibromas was significantly higher in F-MEN1 than in S-MEN1 in both the whole (p < 0.001) and index case (p = 0.003) cohorts. The prevalence of lipomas was also significantly higher in F-MEN1 than in S-MEN1 (p = 0.009) and in MEN1 mutation-positive than in MEN1 mutation-negative (p = 0.01) index cases. In the whole cohort, the prevalence of lipomas was significantly higher in MEN1 mutation-positive compared to MEN1 mutation-negative patients (OR = 2.7, p = 0.02) and in F-MEN1 than in S-MEN1 (p = 0.03), only after adjustment for age. No significant differences were observed for the other non-endocrine manifestations between the two cohorts. Hibernoma and collagenoma were each present in one patient (0.5%) and meningioma and neuroblastoma in 2.7% and 0.5%, respectively. Gastric leiomyoma was present in 1.1% of the patients and uterine leiomyoma in 14% of women. Thyroid cancer, breast cancer, lung cancer, basal cell carcinoma, melanoma, and colorectal cancer were present in 4.9%, 2.7%, 1.6%, 1.6%, 2.2%, and 0.5% of the whole series, respectively.ConclusionsWe found a significantly higher prevalence of angiofibromas and lipomas in F-MEN1 compared with S-MEN1 and in MEN1 mutation-positive compared to MEN1 mutation-negative patients. In patients with one major endocrine manifestation of MEN1, the presence of cutaneous lesions might suggest the diagnosis of MEN1 and a possible indication for genetic screening.

I sistemi a pompa di calore che utilizzano la geotermia di bassa profondità (altrimenti nota come a “bassa entalpia”) per il riscaldamento ed il raffrescamento degli edifici rappresentano una tecnologia efficiente e vantaggiosa che può contribuire significativamente alla riduzione delle emissioni di gas serra. Nonostante le bassissime emissioni e i costi energetici significativamente ridotti rispetto all’impiego di combustibili fossili, la diffusione dei sistemi che sfruttano l’energia geotermica a bassa entalpia (profondità generalmente comprese tra i 30 e i 150 m dal piano campagna), è ancora limitata da molteplici fattori. In questo ambito, gli amministratori del territorio esercitano un ruolo chiave in quanto, attraverso la predisposizione di strumenti di vario tipo (informativi, normativi e tecnici), essi possono imprimere un impulso importante allo sviluppo dei sistemi geotermici di bassa profondità, ampliando così il ventaglio di tecnologie attualmente disponibili per lo sfruttamento delle fonti energetiche rinnovabili [...]