The Journal of Clinical Endocrinology & Metabolism

Abstract Context X-linked hypophosphatemia (XLH) is a rare, genetic, progressive, lifelong disorder manifest by impaired growth and disproportionate short stature. Burosumab, a monoclonal antibody against fibroblast growth factor 23, is approved for treating patients with XLH. Objective To understand the impact of burosumab treatment on growth in a real-world setting. Design Interim data from thr…

TSH testing patterns did not differ between GLP-1 RAs and SGLT-2is, despite the greater likelihood of requiring levothyroxine dose adjustment associated with weight loss seen with GLP-1 RAs therapy. Given levothyroxine's widespread use, this gap suggests missed opportunities for timely and weight-responsive thyroid monitoring.

The RAIR-TC molecular profile is heterogeneous with TERT being the most frequent mutation. Cases negative for all mutations and cases presenting the coexistence of TERT + driver mutation had a worse response to lenvatinib. Conversely, the presence of 1 driver mutation correlated with a better response to lenvatinib.

AGD in mini-puberty and growth across infancy may reflect EDC-mediated hormonal disruption in utero, particularly in females, supporting the need to investigate these markers as predictors of long-term reproductive health.

When given a larger dose of methimazole, patients with severe thyrotoxicosis from GD reach euthyroid status as quickly as other patients with GD. However, these patients have more lability in thyroid control and may benefit from more frequent monitoring. After 6 months, severity of initial thyrotoxicosis was not associated with methimazole dose.

Following fructose consumption, patients with MASLD exhibited distinct patterns of change in phosphate metabolites, reflecting differences in hepatic metabolic responses. These findings suggest altered hepatic metabolic handling of fructose in MASLD, which may have implications for disease progression.

In patients with partial lipodystrophy, tirzepatide use resulted in substantial statistically significant reductions in weight, glycaemic control, serum triglycerides and daily insulin requirement. We recommend further prospective studies to support these findings and to evaluate its impact earlier in the course of the disorder.

BPA administration decreased peripheral insulin sensitivity after 5 days. These data provide the first experimental evidence in humans that BPA administration may reduce insulin sensitivity.

This study defines the most comprehensive CYP17A1 variant spectrum for complete 17-OHD in China, identifies 6 novel pathogenic variants, and uncovers splicing disruption as an under-recognized mechanism in missense mutations. These findings expand the molecular and clinical understanding of 17-OHD, highlight the founder effect of c.985_987delinsAA in the Chinese population, and provide critical i…

Plasma follistatin displayed a significant 24-hour rhythm in our cohort of 22 healthy young men. While meal intake, particularly protein, influences follistatin, it does not fully explain the observed rhythm. Further studies are needed to confirm this rhythm and clarify its clinical relevance.

Trimester-specific TRAb thresholds were higher than the universal ULN multipliers commonly applied in clinical practice, and differed by gestational age and disease status. Application of a single ULN-based threshold titer across different TRAb assays may result in misclassification (i.e. overestimation of fetal and neonatal Graves' disease) and consequently in unnecessary and resource-intensive …

GDM prevalence in South Africa is similar to North America/Europe. Early GDM was diagnosed in a large majority of women who also exhibited features of poorer insulin sensitivity and beta cell function than those diagnosed late in pregnancy or without GDM. WWH had lower GDM risk than HIV-seronegative women. Future studies to understand the implications of early GDM in African populations are warra…

This study is the first to report the elevated circulating level of periostin in adults with OI and its association with disease severity.

Patients with PA demonstrated lower cognition compared with referents and processing speed compared with MACS. Future studies should characterize the impact of MACS on the cognition of patients with PA.

Endogenous Cushing syndrome (CS) is a rare disorder resulting from chronic exposure to excessive concentrations of cortisol. It is likely underdiagnosed because many clinical signs and symptoms are non-specific and overlap with those of common conditions. Furthermore, biochemical testing to diagnose CS can be complex and challenging, especially in milder cases. CS is characterized by excessive da…

Osilodrostat controls hypercortisolism in 66.7% of patients with adrenal CS treated for longer than 4 weeks and in 87.5% of cases treated for longer than 12 weeks, with a positive impact on blood pressure and body weight. Patients who received osilodrostat after other previous steroidogenesis inhibitors have a higher probability of response.