副甲状腺機能低下症

This study investigated the correlation between serum parathyroid hormone (PTH) levels and the risks of all-cause and cause-specific mortality, with specific focus on the association between serum PTH levels within the normal range and mortality risk. This prospective cohort study included 6633 non-hypoparathyroid participants (aged ≥ 20 years) from the National Health and Nutrition Examination Survey 2003-2006. We employed restricted cubic splines to depict the dose-response relationship between serum PTH and the risks of mortality. Multivariate Cox proportional hazards models were used to calculate the hazard ratios (HR) and 95% confidence intervals (95%CI). Among the 6633 participants, 1309 died during follow-up, including 437 cardiovascular deaths, 316 cancer-related deaths, and 556 non-cardiovascular-non-cancer deaths. Restricted cubic splines suggested that ideal outcomes were observed with serum PTH at the lower level of the normal range (18-41 pg/ml). Compared with participants in the low-normal PTH range (18-41 pg/ml), those in the high-normal range (42-74 pg/ml, accounting for 40.4% of the entire normal range) had 22% (HR:1.22,95%CI 1.02-1.46) and 66% (HR:1.66,95%CI 1.20-2.30) increased risks of all-cause and cardiovascular mortality. Similarly, participants in the high PTH range (> 74 pg/ml) had 34% (HR:1.34,95%CI 1.08-1.68), 59% (HR:1.59,95%CI 1.03-2.46) and 44% (HR:1.44,95%CI 1.02-2.04) increased risks of all-cause, cardiovascular and non-cardiovascular-non-cancer mortality. Among U.S. adults, high-normal and high PTH levels were both associated with higher risks of all-cause and cardiovascular mortality. Further studies are needed to evaluate the clinical implications of screening and management for this high-risk population, especially those with high-normal PTH levels, who account for a substantial proportion of the normal-range population but are usually receiving insufficient clinical attention.

This multicentre cross-sectional study evaluated whether pancreatic iron loading could serve as a reliable biomarker for the identification of endocrine disorders in transfusion-dependent thalassaemia (TDT) patients. A total of 994 adult TDT patients (53.7% female; 39.2 ± 8.3 years) from the Extension-Myocardial Iron Overload in Thalassemia network underwent R2* magnetic resonance imaging to quantify hepatic, pancreatic and cardiac iron. Endocrine disorders (diabetes, hypogonadism, hypothyroidism, hypoparathyroidism and growth hormone deficiency) were diagnosed using standardized clinical criteria. Overall, 60.4% of patients had at least one endocrine disorder. Pancreatic R2* was significantly higher in patients with endocrine disorders compared to those without. Multivariable regression analysis identified age, splenectomy, pancreatic R2* and cardiac R2* as independent predictors of endocrine dysfunction, with a significant interaction between pancreatic and cardiac iron. A pancreatic R2* > 80.86 Hz was the best cut-off for predicting endocrine disorders. Pancreatic R2* remained a significant predictor of endocrine disorders even after excluding diabetic patients. Pancreatic iron increased with endocrine severity, being the highest in patients with multiple endocrinopathies, intermediate in those with a single disorder and the lowest in those without endocrine involvement. Pancreatic iron appears to act as a 'sentinel' marker for extra-hepatic toxicity, supporting its integration into routine risk stratification.

BACKGROUND: Postoperative hypoparathyroidism remains the most common complication after total thyroidectomy. Near-infrared autofluorescence leverages the intrinsic fluorescence of parathyroid glands, enabling intraoperative visualization and potentially improving gland preservation, thereby reducing postoperative hypoparathyroidism. METHODS: A randomized clinical trial conducted at two Danish centers assigned total thyroidectomy patients to either the near-infrared autofluorescence or control group. Blood samples and data on hypoparathyroidism treatment were collected preoperatively, postoperative day 1, and at 1-, 3-, 9-, and 12-months follow-up. Hypoparathyroidism was defined by (1) the European Society of Endocrinology guideline definition, (2) ionized calcium <1.15, and (3) parathyroid hormone below the lower reference limit. Primary end points were hypoparathyroidism rates at 3 and 12 months; secondary end points included parathyroid gland identification rate, surgical duration, signal-to-background ratio, and parathyroid hormone/ionized calcium ratio. RESULTS: A total of 189 patients were randomized (near-infrared autofluorescence: 93; control: 96). No significant difference in hypoparathyroidism rates was observed at 3 and 12 months (European Society of Endocrinology definition at 3 mo: near-infrared autofluorescence: 15.6%; control: 16.9%; P = .97). Subanalysis indicated greater near-infrared autofluorescence benefit during total thyroidectomy with central lymph node dissection. The parathyroid gland identification was significantly higher in the near-infrared autofluorescence group (3.1 vs 2.8; P = .045). The best-imaged parathyroid glands had a mean signal-to-background ratio_maximum of 2.3 and signal-to-background ratio_mean of 1.9. Near-infrared autofluorescence did not extend surgical duration or affect parathyroid hormone/ionized calcium ratios. A higher fraction of controls received calcium and vitamin D at 3 months (71.8% vs 59.0%; P = .16). CONCLUSIONS: Despite improved parathyroid gland identification with near-infrared autofluorescence, there was no significant difference in rates of postoperative hypoparathyroidism at any follow-up.

BACKGROUND: Thyroid surgery in children is uncommon. This study assessed children's/parents' perception of morbidity after thyroid surgery delivered within an established integrated paediatric endocrine surgery programme involving a high-volume adult thyroid surgeon and a paediatric surgeon. METHODS: A retrospective cohort study analysed outcomes in consecutive unselected patients. Patient reported outcomes were collected using standardised questionnaires Voice Handicap Index (VHI-10), Voice-related Quality of Life (VRQoL), Swallowing Impairment Score and Manchester Scar Scale (MSS). RESULTS: Between 2011-2025 93 children had 102 thyroid or parathyroid operations. Total thyroidectomy (n=53) and thyroid lobectomy (n=27) was performed with an average 1-day postoperative admission. Of the 20 children with thyroid cancer thyroid, 12 needed radical neck dissection for locally advanced disease and their median hospital stay was 3 days. Temporary (n=15) and permanent (n=1) hypoparathyroidism was the most common recorded complication but only one child needed calcium supplements for >12 months. A postal survey received replies from 32 of 40 patients (78%) patients (27 female) at a median of 40 months post-op (range 5-111). VHI-10 scores were normal in 24 (75%) children and increased in 8 (25%). VRQoL was excellent in 24 (75%). Swallowing was normal in nine, slightly affected in 21 and severely affected in two children. Manchester Scar Score ranged from 5-16 (median 9) with 4 children scoring the ideal score of 5. CONCLUSION: When conducted with a multidisciplinary approach in a specialist paediatric and endocrine centre, paediatric thyroid surgery is safe and has minimal long-term impact on voice.

BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) may be overlooked in adults when neurological care is prompted by pyramidal, gait, or parkinsonism-mimicking presentations rather than by congenital, developmental, psychiatric, or systemic features. METHODS: We retrospectively reviewed the clinical, imaging, and genetic findings of two unrelated adults whose neurological presentations led to whole-exome sequencing-based copy-number variant (CNV) detection of 22q11.21 deletions. Orthogonal confirmation by chromosomal microarray, multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), fluorescence in situ hybridization (FISH), or copy-number variation sequencing (CNV-seq) was not available; therefore, the reported deletion sizes and coordinates represent WES-derived estimates. RESULTS: Patient 1 presented with progressive lower-limb weakness, a spastic unsteady gait, pyramidal signs, dysarthria, and ataxic features, together with learning difficulty, palatal abnormalities, and a maternal history of similar gait disturbance and suspected epilepsy; analysis identified a 2.67-Mb deletion at 22q11.21. Patient 2 presented with progressive limb weakness, dysarthria, parkinsonism-mimicking rigidity and slowness, bilateral basal ganglia calcification, abnormal globus pallidus MRI signals, developmental delay, psychiatric symptoms, craniofacial features, and a maternal history of similar motor and cognitive impairment; analysis identified a 2.52-Mb deletion at 22q11.21. CONCLUSION: These cases highlight diagnostic pitfalls and syndromic clues rather than establish a new mechanism. In adult neurology practice, developmental history, palatal or craniofacial abnormalities, basal ganglia calcification, psychiatric symptoms, and family history should prompt consideration of 22q11.2DS and genetic testing that is sensitive to copy-number variants.