Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21-hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long-term use of supraphysiological doses and multiple factors inherent to the disease itself have led to obesity becoming a common metabolic complication in CCAH patients. The mechanism of obesity in CCAH patients is complex and involves multiple factors related to both treatment and the disease itself. This article provides a narrative review of the incidence, influencing factors, related complications and treatment management strategies of obesity in CCAH patients, with the aim of offering comprehensive management recommendations for clinical practice.

To evaluate the accuracy of expert-performed ultrasonography (US) for preoperative localization in minimally invasive parathyroidectomy (MIP) compared with community US and other imaging modalities. Retrospective cohort study. Tertiary referral center for endocrine surgery. A retrospective, single-center diagnostic accuracy study of 227 patients with primary hyperparathyroidism who underwent surgery and pre-operative imaging by a dedicated neck radiologist (expert US). Sensitivity, specificity, and positive predictive value (PPV) were calculated, and were compared to other imaging modalities including community US, 99mTc-MIBI, SPECT-CT and 4DCT. Expert US showed high sensitivity (89%), specificity (98%), and PPV (95%), correctly localizing adenomas in 89% of cases. It outperformed the sensitivity and specificity of community US (50%/95%), MIBI (75%/95%), SPECT-CT (82%/96%) and 4D-CT (52%/94%), respectively, particularly in atypical cases like ectopic adenomas (25% prevalence) and multiglandular disease (6% prevalence). Expert-performed US should be considered the primary imaging modality for guiding MIP. Surgeons should consider referring patients to an expert ultrasonographer in cases of suspected ectopic adenoma, presence of multiglandular disease, before referring to 4D-CT scans or when considering bilateral neck explorations.

To identify pre-treatment determinants of hypothyroidism and decision regret (DR) following radioiodine (RAI) therapy in Graves' disease (GD), and to assess their longitudinal impact on health-related quality of life (QoL). Prospective cohort of 500 GD patients receiving RAI. Machine learning models predicted hypothyroidism (3/6 months) and high DR using clinical indices, socio-economic factors, and ThyPRO-39 QoL scores. Longitudinal QoL was assessed at baseline, 3 and 6 months. Unmarried (p < 0.001), unemployed (35.50 ± 23.15 vs. 27.01 ± 6.95; p = 0.032), and higher income patients (> 5000 CNY/month: 29.67 ± 6.94 vs. 26.10 ± 7.95; p = 0.018) had significantly higher DR. Longer pre-RAI medication (> 12 months: 30.31 ± 15.96 vs. 27.48 ± 10.42; p = 0.015) increased regret. Hypothyroidism models showed poor discrimination (AUC ≤ 0.59). DR prediction was robust (LR AUC = 0.81), driven by pre-treatment stress (β = 1.32, p < 0.001) and anxiety (β = 0.98, p = 0.003). QoL improved in goitre (p < 0.001) and hypermetabolic symptoms (p < 0.001) at 3 months, while overall QoL (p < 0.001) and depression (p = 0.006) improved by 6 months. Cognitive deficits persisted beyond 3 months (p > 0.05). Non-clinical factors (marital/employment/income status) and psychological states strongly predict post-RAI regret. Hypothyroidism remains unpredictable, but high DR risk can be accurately identified (AUC = 0.81) for targeted intervention. Persistent cognitive impairment requires clinical attention despite biochemical normalisation.

Calcitonin doubling time (CT-DT) is an established prognostic tool in medullary thyroid carcinoma (MTC), yet CT measurement can be affected by analytical variability and assay interference. Procalcitonin (PCT) has shown promise as a complementary biomarker, but data on PCT doubling time (PCT-DT) remain scarce. Longitudinal CT and PCT were measured using Elecsys immunoassays in 25 MTC patients followed for up to 24 months after thyroidectomy. Doubling times were estimated using log-linear regression and a rolling-window approach. Agreement was assessed using Spearman correlation, Bland-Altman analysis, and Cohen's κ across predefined DT categories. CT and PCT kinetics showed clear separation across response categories. In progressive disease, CT-DT and PCT-DT were strongly correlated with minimal systematic bias and substantial categorical agreement (κ = 0.76). Short DT values clustered in structural incomplete responders. PCT-DT closely mirrors CT-DT and may serve as a complementary kinetic marker in the postoperative monitoring of MTC, particularly when CT interpretation is uncertain; however, these findings should be considered exploratory and warrant confirmation in larger prospective cohorts before clinical implementation.

Growth hormone deficiency (GHD) diagnosis typically requires the performance of two sequential stimulation tests. Glucagon stimulation test (GST) and arginine stimulation test (AST) are widely used. This study aimed to determine the most suitable order of tests. A retrospective study comparing GST-first group and AST-first group. Children aged 1 to 17 years with suspected GHD who underwent testing between 2017 and 2022 using either GST or the AST initially. Exclusion criteria included patients with genetic syndromes or obesity and those who performed the tests more than 6 months apart. In order to determine the optimal order of tests, the study calculated the error rate of the first test in light of the final diagnosis after the second test using a peak GH cut-off 7.5 ng/mL. Variables such as sex, age, BMI, and socioeconomic status were analysed for their influence on outcomes. A total of 881 children were included. Based on the initial GHST performed, the study population was divided into two subgroups: GST-first group (712 subjects) and AST-first group (171 subjects). The proportion of discordant results was significantly lower in the GST-first group - 37.4% compared to 50.7% in the AST -first group (p = 0.048). In stepwise logistic regression none of the examined characteristics such as gender, age, BMI, priming of sex hormones prior to the tests or socioeconomic status demonstrated a statistically significant effect on the probability of discordant results in our study. This study demonstrated that GST is associated with a lower rate of discordant results compared to AST and potentially reduces the need for a second test, minimising patient inconvenience, lowering healthcare expenses, and decreasing time-consuming hospital visits for families.

Vitamin D testing uses considerable resources and has increased recently. We investigated repeating testing in Auckland, New Zealand. We analysed repeated 25-hydroxyvitamin D (25OHD) tests in three databases from the Auckland region from 2005 to 2024 (362,618 tests). We assessed annual numbers, time between tests, characteristics associated with repeat tests, and relationships between requestors and repeated tests. Twenty-four percent of individuals had ≥ 2 25OHD tests. 34% of all 25OHD tests were repeats. A disproportionately high number of repeat tests were done in a small number of individuals: 57% had one repeated test (i.e., two tests total) but 5.3% had ≥ 6 and 1.4% had ≥ 11 repeated tests. Fifty eight percentage of repeat tests were done within 1 y and 77% within 2 y. 85% of people with repeated tests had a first 25OHD > 25 nmol/L, but in only 9.8% a repeated 25OHD was ≤ 25 nmol/L. Most repeat tests (77%) when the first 25OHD was > 75 nmol/L were > 75 nmol/L A small number of high-volume requestors ordered most tests: 3/7637 ordered > 5000 tests, collectively 7% (21,092) of the total, and 98 ordered > 500 tests (collectively 44%). The most frequent requestors were primary care doctors and bariatric surgeons. Simple restrictions based on the result and time since previous 25OHD could reduce repeated tests by > 60%-90% with only 4%-5% of 'avoided' tests ≤ 25 nmol/L. Repeated vitamin D testing is common, and most results are not low. Restricting test availability and targeting those at risk of clinical complications of vitamin D deficiency are likely to reduce unnecessary tests.

Primary aldosteronism (PA) has been linked with reduced health-related quality of life (QoL) and increased prevalence of anxiety and depression. While most studies compared patients with PA to healthy subjects, this study focused on comparison with hypertensive patients without PA to identify PA-specific effects. Furthermore, the impact of targeted therapy on QoL and mental health was evaluated. Mental and physical health-related QoL, anxiety and presence of depressive and panic symptoms were assessed using the SF-12, GAD-7 and PHQ questionnaires in 925 patients with arterial hypertension tested for PA in a prospective, multi-center international prospective cohort study. Questionnaires were assessed at baseline as well as 3-6 months after initiation of targeted therapy. Amongst 833 of 925 patients who completed the necessary diagnostic procedures, 211 were diagnosed with PA. 98 of 116 patients with unilateral PA received unilateral adrenalectomy. At baseline, QoL, anxiety and mental health scores did not differ in patients with PA vs patients with hypertension without PA. At outcome assessment, SF-12 mental and physical component summaries as well as GAD-7 specifically improved in patients with unilateral PA after adrenalectomy (mean Δ = 4.2, p = 0.018, Δ = 3.6, p = 0.038 and Δ = -1.9, p = 0.006, respectively) in contrast to no improvement in patients with PA on MRA treatment. There was no difference in health-related QoL, anxiety and mental health in patients with hypertension with versus without PA. Unilateral adrenalectomy but not medical therapy improved health-related QoL and decreased anxiety in patients with PA.

Differentiated thyroid carcinoma (DTC) has an excellent prognosis, but recurrence remains a clinical concern, especially in intermediate-risk patients. Current stratification systems focus primarily on tumor characteristics, overlooking the host's biological capacity to counteract tumor progression. To investigate this aspect, we assessed systemic inflammatory and nutritional status using hematological indices. The study aimed to evaluate the prognostic value of these markers in predicting recurrence risk in patients with intermediate-risk DTC. We retrospectively analyzed consecutive patients with intermediate-risk DTC who met the following criteria: (1) were classified as intermediate risk according to ATA guidelines; (2) showed an excellent or indeterminate response 12 months after initial treatment; and (3) had at least three consecutive years of follow-up at our center after thyroidectomy. Nine hematological indices were calculated from blood samples collected on the day of RAI administration. Statistical analyses included ROC curve analysis, logistic regression, and Kaplan-Meier analysis. A total of 282 patients were included, with a median follow-up of 91 months. Among the indices tested, the monocyte-to-lymphocyte ratio (MLR) predicted recurrence better than the others. A cut-off of 0.188 yielded 82.9% sensitivity and 54.7% specificity (AUC: 0.70). In multivariate analysis, high MLR (OR = 4.94, p < 0.001), tumor size, vascular invasion, and lymph node metastases were independently associated with recurrence. Cox regression confirmed MLR as an independent predictor of shorter recurrence-free survival (HR = 3.01, p < 0.001). Nutritional indices showed no prognostic value. Pre-RAI MLR may serve as a simple marker to refine recurrence risk stratification and personalize follow-up in intermediate-risk DTC.

An increasing number of trans individuals, particularly those who are non-binary, desire lower testosterone doses than those outlined in current guidelines for gender affirmation. These guidelines acknowledge the need for a tailored approach to treatment, especially for non-binary people. However, existing guidelines for initiation of testosterone assume that trans individuals desire rapid and complete masculinisation through standard dosing. We aimed to assess the initiation and maintenance of low-dose testosterone in non-binary individuals treated with transdermal testosterone for ≥ 6 months. Retrospective audit. Non-binary individuals initiating low-dose transdermal testosterone with ≥ 6 months follow-up. Testosterone 1% gel (< 50 mg daily) or testosterone 5% cream (< 100 mg daily). Transdermal testosterone dose and serum total testosterone concentration. Forty-six individuals were included. Median age was 27 years (24-30) and duration of testosterone was 14 months (9-24). For individuals treated with testosterone 1% gel, median dose at initiation was 12.5 mg (12.5-25) and 25 mg (20.4-37.5) at last follow-up (p < 0.01), and for those treated with testosterone 5% cream, the median dose at initiation was 50 mg (31.3-50) and 50 mg (50-68.8) at last follow-up (p = 0.02). Median serum total testosterone concentration was 11 nmol/L (5.2-15.7). By the last follow-up, 40 (87%) remained on low-dose testosterone and 6 (13%) had increased to full-dose testosterone. In a subgroup of 30 individuals with ≥ 12 months treatment, 26 (87%) remained on low-dose testosterone by last follow-up. Three (7%) individuals had polycythemia (haematocrit > 0.5). Most non-binary individuals initiating low-dose transdermal testosterone continue doses lower than those recommended in current guidelines after 6-12 months of treatment. These hypothesis-generating findings highlight the need for studies evaluating the influence of low-dose testosterone on clinical outcomes and safety end-points.

Despite advances in neonatal care, delayed diagnosis and treatment of congenital hypothyroidism (CH) remain prevalent in regions lacking universal screening. This retrospective study evaluated catch-up growth patterns in 65 children with a delayed diagnosis of CH. Study children were stratified into four groups based on age at thyroxine initiation: Groups A (< 1 year), B (1-<3 years), C (3-<5 years), and D (5-10 years). Growth outcomes, in terms of serial height z scores, skeletal maturation, proportion achieving catch-up growth, and time to catch-up, were assessed at baseline and after 3 years of thyroxine. Within 3 years of treatment initiation, 64.6% (42/65) of children achieved complete catch-up in linear growth, and 56.9% (37/65) attained optimum catch-up. Among those treated before 1 year of age (Group A), 76% (19/25) achieved complete and optimum catch-up over a median (IQR) duration of 22 [12-33] months. In children diagnosed after 1 year of age (Groups B-D combined), 57.5% (23/40) attained complete catch-up, of whom 78.3% (18/23) achieved optimum growth, with time to catch-up increasing progressively with later age at diagnosis (median range-25-34 months). The greatest change in height z-scores was observed in the first-year post-treatment across all groups, with a decline thereafter. Catch-up in skeletal maturation was observed in 72.3% (47/65) of children and occurred earlier than catch-up in linear growth. Early thyroxine initiation in CH is critical for optimal linear and skeletal growth. Delayed diagnosis is associated with slower, suboptimal recovery and an increased risk of compromised final adult height.