Sara Ivanis

Primary hyperparathyroidism (PHPT) in the pediatric population is a rare but clinically important endocrine disorder that poses significant diagnostic and therapeutic challenges. In contrast to adult PHPT, which is often detected incidentally, pediatric patients are frequently symptomatic at diagnosis, with manifestations reflecting prolonged exposure to hypercalcemia and elevated parathyroid hormone levels. Neonatal forms, particularly neonatal severe hyperparathyroidism, represent life-threatening conditions requiring prompt biochemical recognition and urgent intervention. The heterogeneity of clinical presentation and the rarity of the disease contribute to delayed diagnosis and increased risk of end-organ complications. Although hereditary syndromes are proportionally more frequent in children than in adults, sporadic PHPT remains the most common etiology in pediatric patients and is typically caused by a single parathyroid adenoma. Genetically determined forms, including multiple endocrine neoplasia syndromes, hyperparathyroidism–jaw tumor syndrome, and calcium-sensing receptor-related disorders, are often associated with multiglandular disease, earlier onset, and a higher risk of persistence or recurrence. Biochemical confirmation remains the cornerstone of PHPT diagnosis, while diagnostic imaging plays an important role in preoperative localization and surgical planning. High-resolution cervical ultrasound is the preferred first-line imaging modality in pediatric patients due to its excellent diagnostic performance and absence of ionizing radiation. Functional and advanced cross-sectional imaging techniques should be applied in a stepwise manner in selected cases with inconclusive first-line imaging or suspected ectopic disease, balancing diagnostic yield against radiation exposure. Surgical management remains the definitive treatment for pediatric PHPT. The extent of surgery is determined by disease etiology, localization findings, and intraoperative assessment, with focused parathyroidectomy favored in sporadic single-gland disease and more extensive approaches required in genetically determined forms. This review highlights a structured diagnostic and therapeutic pathway for pediatric PHPT, emphasizing the integration of biochemical testing, imaging strategies, genetic evaluation, and individualized surgical management to optimize outcomes and reduce long-term morbidity.

Background/Objectives: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. The classic variant (cPTC) is characterized by indolent behavior and excellent prognosis. However, rare subtypes of PTC most often exhibit adverse clinical behavior. The aim of the study was to assess the aggressiveness of rare variants of PTC by analyzing clinicopathological characteristics (CPCs) and survival outcomes. Methods: We analyzed 80 patients with rare PTC variants treated between 2009 and 2019 who were compared with cPTC and matched with a control group for age and tumor size. The variants were categorized into high-risk (HRV: tall cell, diffuse sclerosing, columnar cell, and hobnail variants), intermediate-risk (IRV: solid variant (SV)), and low-risk (LRV: oncocytic (OV) and Warthin-like (WLV)) variants. Different CPCs (capsule and blood vessel invasion, lymphonodal metastases, microscopic and macroscopic extrathyroid extension, multifocal and bilateral presentation) and survival outcomes—overall (OS), disease-specific (DSS), and disease-free survival (DFS) were compared. Results: HRVs exhibited significantly more aggressive CPCs and worse OS, DSS, and DFS compared to cPTC (p < 0.001). IRVs showed no significant difference in CPCs or survival outcomes compared to cPTC. LRVs showed excellent survival but were associated with several unfavorable CPCs. Multivariate analysis identified classification in HRVs as the only independent predictor of recurrence (p = 0.014). Conclusions: Tumors in the HRV group should retain their status as aggressive PTC variants due to unfavorable behavior and poorer prognosis. SVs, despite earlier assumptions, do not exhibit aggressive characteristics. Although the OV and WLV have similar survival to cPTC, their potential for adverse CPCs requires caution.

Background: Medullary thyroid carcinoma (MTC) is a rare malignancy derived from parafollicular C-cells, with calcitonin (Ct) as its key biomarker. While basal Ct (bCt) levels above 100 pg/mL strongly suggest MTC, intermediate elevations (10–100 pg/mL) may reflect C-cell hyperplasia (CCH) or other benign conditions, making diagnostics challenging. Although calcium stimulation testing enhances sensitivity, the optimal cut-off values and comparative efficacy of calcium gluconate (CG) versus calcium chloride (CC) remain insufficiently researched. Methods: Data on 176 patients who underwent total thyroidectomy between 2009 and 2025 were retrospectively analyzed. BCt values ranged from 10 to 100 pg/mL, and stimulated Ct (sCt) values were above 100 pg/mL. CG was used from 2009 to 2019, and CC was used from 2020 to 2025. Definitive pathohistological findings divided patients into those with MTC, CCH, or no C-cell pathology. Receiver operating characteristic (ROC) analysis identified optimal Ct thresholds for predicting MTC for each stimulatory agent. Results: Of the 176 patients, 36 (20.5%) had confirmed MTC. A bCt threshold of 31.1 pg/mL yielded 69.4% sensitivity and 87.1% specificity. For sCt, optimal cut-offs were 810.8 pg/mL for CG and 1076 pg/mL for CC. Lower thresholds (388.4 pg/mL for CG and 431.5 pg/mL for CC) improved sensitivity (≥76.9%) and negative predictive value (>91%). Conclusions: Calcium stimulation testing improves MTC detection in patients with moderate bCt elevation. Although CG showed marginally better diagnostic performance, CC remains a practical and reliable alternative, especially when higher cut-off values are considered. Early surgical intervention should be considered when sensitivity-driven thresholds are met.

Introduction: Sertoli cell tumors are rare sex cord-stromal tumors, accounting for less than 1% of primary testicular tumors. They typically arise in the testes and ovaries, with other localizations being uncommon. We present the case of a Sertoli cell tumor in the adrenal gland, which, to our knowledge, is the first reported in the literature. Case Presentation: A 44-year-old male patient was admitted to the clinic for endocrine surgery for laparoscopic surgery of a right adrenal gland incidentaloma measuring 57 × 47 × 59 mm, discovered during a routine abdominal ultrasonography. The patient had a history of hypertension but no other comorbidities. Biochemical and physical examinations revealed no signs of hypercortisolism. Urinary metanephrine and normetanephrine levels were within normal limits. A right laparoscopic adrenalectomy was performed, and a 5 cm tumor was identified without evidence of locoregional invasion. Pathological examination confirmed a Sertoli cell tumor of the adrenal gland. Immunohistochemical analysis revealed positive staining for vimentin, steroidogenic factor 1 (SF1), and beta-catenin, while chromogranin A, hCG, PSA, and TTF1 were negative. The Ki-67 index was 3%. The patient was subsequently referred to a urologist, where testicular ultrasonography showed no abnormalities. There were no signs of recurrence during a 15-month follow-up period. Additionally, the patient’s biannual antihypertensive treatment was discontinued by a cardiologist 1.5 months post-surgery. Conclusions: Sertoli cell tumors are an exceptionally rare entity. To our knowledge, this is the first reported case of a primary Sertoli cell tumor originating in the adrenal gland. Given their potential for malignancy, regular follow-up and additional diagnostic evaluations may be necessary. Laparoscopic adrenalectomy appears to be a suitable definitive treatment for this condition.

Recurrent laryngeal nerve (RLN) injuries are one of the most significant complications in thyroid gland surgery. Visual identification of RLN is a part of every thyroid gland operation. In the last two decades Intraoperative neuromonitoring (IONM) has become widely accepted and standard practice in many large workflow centres. IONM helps to facilitate the identification and provides useful information about functional integrity of RLN therefore helping reduce incidence of RLN injuries.

Aim: Papillary thyroid carcinoma (PTC) is a well differentiated, highly curable cancer, with a wide variety of histological forms. Although most of these variants are indolent, aggressive variants of PTC have been described. These variants include tall cell variant (TCV), hobnail variant (HV), columnar cell variant (CCV), diffuse sclerosing variant (DSV) and solid variant (SV). Solid variant represents one of the rarest forms of papillary thyroid carcinoma, with an incidence of about 2.6% according to retrospective studies. Methods: In this retrospective study, data of all patients that underwent thyroid surgery in our Clinic between January 2008 and January 2018 were analyzed. All relevant information was obtained from a prospectively maintained institutional database. Results: Of total of 1867 consecutive patients operated for follicular derived thyroid carcinomas during ten-year period, 38 had solid variant PTC as a definitive pathohistological finding (14 male and 24 female). The incidence of solid variant PTC is 2.04% in our series. Patient follow-up ranged from 36 to 168 months, disease specific five-year survival rate was 97.4%. Conclusion: Considering the scarcity of research discussing the prognosis of this variant of PTC, we believe that the treatment plan should be decided based on the extent of tumor and the experience of clinicians. WHO classification of thyroid neoplasms from 2022,may shed some light as to why the prognosis of solid variant PTC may be less aggressive than previously thought.

Introduction Non functional parathyroid carcinoma (PC) is one of the rarest malignant neoplasms. Due to the lack of symptoms and laboratory findings, it is mostly diagnosed in late AQ2 stages, when local invasion and dissemination are already present. However, our case is an exception, because it was detected in early stage, with no local invasion present. We present a case of the smallest non-functional PC yet reported and review of the literature. Case presentation A 47-year-old woman was admitted to outpatient Clinic where fine-needle aspiration biopsy (FNAB) of bilateral thyroid nodules (slide 1) and central neck mass (slide 2), which was suspected to be an enlarged lymphatic nodule or parathyroid gland was performed. Results came back as Bethesda I-colloid (slide 1), and Bethesda IV (slide 2), stating that it is hard to distinguish thyroid gland oxyphil lesions from parathyroid cells. Total thyroidectomy was performed as well as excision of the left central neck mass, without any involvement of surrounding structures. Pathological examination revealed bilateral thyroid follicular nodular disease, papillary microcarcinoma, and parathyroid carcinoma with vascular and capsular invasion, measuring 10 × 8 × 7 mm. The immunohistochemical profile included positive PTH, Chromogranin A, and negative TTF1. Conclusion Non-functional PC is usually diagnosed in advanced stages, already involving adjacent structures; however, this case presents a rare example. It is important not to exclude PC as a differential diagnosis in the absence of elevated Ca and PTH serum levels. Follow-up will be difficult, since there are no prognostic parameters to rely on.