副甲状腺機能低下症

Remote-access thyroidectomy via the robotic transaxillary approach (RTAT) avoids an anterior cervical scar while providing a stable, magnified operative field. How a high-volume RTAT programme evolves across its full institutional lifespan-from initial case acquisition through deliberate expansion of surgical indications-has not been comprehensively characterised in the Western literature. Retrospective analysis of 884 consecutive RTAT procedures at a single tertiary referral centre. Cases were stratified into three chronological descriptive phases: early (cases 1-295), middle (cases 296-589), and late (cases 590-884). Era boundaries were defined a priori and were not optimised by formal breakpoint or CUSUM analysis. Operative extent, operative time data, conversion rate, postoperative complications, and access-specific morbidity were compared across eras. Independent predictors of operative time were assessed by multivariable linear regression in the 355 cases with complete operative time and covariate data. The cohort was 75.7% female (of 879 patients with documented sex); mean age was 45.1 ± 12.4 years. Among 355 cases with recorded operative time (40.2% of the cohort, predominantly from the early and middle eras), mean time fell from 159.7 ± 39.0 min (early) to 133.4 ± 34.5 min (middle; p < 0.001); late-era data were not systematically available. Total thyroidectomy rose from 42.0% to 50.0% across eras (p = 0.02); malignancy proportion increased from 8.5% to 14.9%; and mean specimen weight rose from 23.8 g to 31.9 g. Conversion to open surgery occurred in 6 patients (0.7%). Transient RLN weakness affected 40 patients (4.52%); no permanent palsy was recorded. Working-space dysaesthesia (2.49%) and brachial plexopathy (0.90%) were confined almost entirely to the early era. Chronological case number, total thyroidectomy, and BMI were independently associated with operative time (R² = 0.38). In 884 consecutive RTAT procedures, operative time declined across successive programme phases, access-specific morbidity fell substantially, and the case mix broadened toward bilateral resection and oncological disease without a corresponding rise in major complications. The absence of permanent RLN injury or hypoparathyroidism across the full series represents a noteworthy safety observation during a period of deliberate indication expansion. These findings contribute descriptive evidence supporting staged RTAT programme development at an experienced centre.

PURPOSE: To assess the efficacy and safety of parathyroid hormone(PTH) analogs alone as compared with the conventional therapy on HypoPTH, and assess its emphasis on patients' health-related quality of life (HRQoL). METHODS: Database (PubMed, Web of Science, Embase and Cochrane Library) were systematically searched until February 30, 2026. The primary outcomes were serum calcium and serum phosphate, while the secondary outcomes included 24-hour urinary calcium excretion, serum 25(OH)D, serum 1,25-dihydroxyvitamin D, calcium phosphate product, estimated glomerular filtration rate (eGFR), adverse events, and HRQoL. Meta-analysis was conducted using RevMan 5.4 and STATA 17.0. RESULTS: Eleven studies were included. Compared to conventional therapy, PTH analogs therapy showed no difference in serum calcium (MD = -0.02 mmol/L; 95% CI, -0.14 to 0.11 mmol/L), serum phosphorus (MD = 0.08 mmol/L; 95% CI, -0.05 to 0.20 mmol/L) and 24-hour urinary calcium excretion (MD = 1.00 mmol; 95% CI, -1.84 to 3.84 mmol). PTH analogs decreased 25(OH) vitamin D, increased 1,25(OH)2 vitamin D and eGFR. Additionally, PTH analogs therapy significantly improved HRQoL as measured by the Short Form 36 (SF-36) Health Survey Questionnaire (MD = -7.35; 95% CI, -8.37 to -6.33). CONCLUSION: In addition to the comparable control of serum calcium and serum phosphorus levels to conventional therapy, limited data indicate that PTH analogs treatment may be better in regulating the serum vitamin D and maintaining the eGFR for patients with HypoPTH. PTH analogs therapy also improves patients' HRQoL. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD420251089112.

INTRODUCTION: β-thalassemia major (BTM) is made up of group of quantitative anemias characterized by severe anemia and hemochromatosis from frequent blood transfusion. Iron overload in the endocrine system (pituitary gland, thyroid and parathyroid glands, pancreas, and gonads) resulting in different endocrinopathies is a major challenge among BTM patients especially among adults. This study aims at describing different endocrinopathies; namely short stature, hypothyroidism and diabetes mellitus among adults treated at Dubai Thalassemia Center in United Arab Emirates. MATERIALS AND METHODS: This study is observational retrospective cohort in nature, of all adult patients with BTM aged above 18 years who attended the Dubai Thalassemia Centre during the period of November 2019 and May 2021, were extracted from patients' electronic medical records. RESULTS: A total of 200 adults with BTM above 18 years of age were enrolled in this study. Females constituted 54.5% (n=109) of the sample while 45.5% (n=91) were males. The annual average pre-transfusion hemoglobin level was 9 gm/dL in 81.5%, n=163, while it was low (<9 gm/dL) in 18.0% (n=36) patients. The mean height of all male patients was 165.4 cm (SD = 6.05) and for females it was 154.11 cm (SD = 5.67), while the mean weights of all male and female patients were 60.4 kg (SD + 12.74) and 55.8 kg (SD = 14.60), respectively. Of all female patients, the mean age of menarche was 15 years. The prevalence of Hypogonadism is 23%, Diabetes Mellitus 15%, Hypothyroidism 11%, Hypoparathyroidism 9% and Short Stature 1.5%. CONCLUSION: Despite the improved care and introduction of oral chelators, the prevalence of endocrinopathies namely hypogonadism, short stature, hypothyroidism, hypoparathyroidism and diabetes mellitus still pose a major concern for patients with BTM. More emphasis needs to be placed on improving compliance with chelation, and further studies are required to investigate new therapies options to reduce these complications.

Autoimmune polyendocrine syndrome type 1 (APS-1), also known as Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a monogenic disorder of impaired central immune tolerance classically inherited in an autosomal recessive manner and caused by biallelic deleterious variants in the autoimmune regulator (AIRE) gene, leading to chronic mucocutaneous candidiasis (CMC) and multiorgan autoimmunity. Although hypoparathyroidism and adrenal insufficiency are among the most common and clinically consequential manifestations, it is increasingly recognized that several non-endocrine features - including autoimmune enteritis, urticarial eruption (termed APECED rash), enamel hypoplasia, autoimmune pneumonitis, and autoimmune hepatitis - often precede classical endocrinopathies, contributing to delayed diagnosis. Endocrinologists are often among the first specialists to encounter these patients and play a central role in early recognition and longitudinal care. Here we present five cases that illustrate the expanding clinical spectrum of APS-1, novel genetic mechanisms, key diagnostic challenges, and emerging therapeutic approaches. These cases highlight the importance of applying expanded clinical criteria and recognizing the limitations of standard genetic testing, including the need to consider deep intronic and dominant-negative AIRE variants. Finally, evolving mechanistic insights have established APS-1 as an interferon-γ (IFN-γ)-driven disease, providing a rationale for emerging targeted immunomodulatory therapies such as Janus kinase (JAK) inhibition with ruxolitinib. Early diagnosis enables proactive surveillance and may allow timely initiation of disease-modifying treatment.

BACKGROUND: Genetic diagnosis of endocrine disorders is often hampered by the complexity of analyzing Whole Exome Sequencing (WES) data. We developed the endocrine variant extractor (EVE), a streamlined, clinician-friendly bioinformatics pipeline designed for multi-tier genetic screening with a core panel for parathyroid disorders (26 genes) and an expanded endocrine panel for broader metabolic assessment (413 genes, fully encompassing the parathyroid panel). METHODS: Encapsulated within a Docker container and automated via a custom Python wrapper, EVE integrates core bioinformatics engines, including BWA-MEM, GATK, and SnpEff. The pipeline employs a tiered reporting strategy, filtering and annotating variants across both panels using pathogenicity scores (SIFT, PolyPhen-2) and clinical databases (ClinVar, gnomAD). This architecture ensures cross-platform compatibility without complex manual configuration. RESULTS: To validate the pipeline, EVE was applied to clinical datasets. EVE successfully filtered >300,000 raw variants down to a handful of actionable candidates. Using this pipeline, we precisely identified the first Korean case of a de novo GATA3 frameshift variant (p.Ala173fs) in an HDR syndrome patient, which was not previously reported in the ClinVar database. Analysis took ~3 h, reducing manual data review by >99.6%. CONCLUSION: EVE provides a streamlined, high-efficiency workflow that automates the filtering of thousands of raw WES variants into a curated list of clinically relevant variants. This robust framework enables the creation of a comprehensive "endocrine variant atlas," empowering clinicians to integrate high-throughput genetic profiling into routine diagnostics and accelerate the discovery of novel disease-causing variants. The complete source code for EVE is freely available at https://github.com/hanyunseo01/EVE.