The Journal of Clinical Endocrinology & Metabolism

Abstract Purpose To assess the results of patient-reported outcome measures (PROMs) in a national cohort of females with a prolactinoma by disease activity. Methods Females with prolactinoma included in the PRolaCT or ProlaC study were assessed cross-sectionally, comparing patients with active (prolactin above upper limit of normal (ULN)) and controlled (prolactin<ULN) disease. Disease and…

Abstract Introduction Current tools to evaluate fracture risk in children with Osteogenesis Imperfecta (OI) are limited and bone mineral density (BMD) has limitations and is not widely available for children under 5 years. We hypothesized that the Bone Health Index (BHI), evaluating the average cortical thickness of the three middle metacarpal bones, adjusted for bone width and length, could be a…

CONTEXT: Temple syndrome (TS14) is an imprinting disorder caused by abnormalities at chromosome 14q32.2. Its phenotype overlaps with Silver-Russell (SRS) and Prader-Willi (PWS) syndromes, contributing to under-recognition and delayed diagnosis. Its endocrine manifestations remain incompletely characterised. OBJECTIVE: To report the largest TS14 cohort to date to define the endocrine and clinical …

CONTEXT: In complete androgen insensitivity syndrome (CAIS), gonadectomy is increasingly deferred until after puberty, creating a need for imaging-based strategies that distinguish low-risk gonads from those warranting surgical intervention. OBJECTIVE: To define multiparametric MRI features associated with absence of clinically relevant macroscopic gonadal neoplasia in postpubertal individuals wi…

As the global burden of cirrhosis shifts toward metabolic dysfunction-associated steatotic liver disease (MASLD), diabetes and metabolic syndrome act as key upstream drivers of liver injury. At the same time, diabetes is increasingly recognized even in cirrhosis of non-metabolic etiologies, including viral hepatitis, reflecting both shared risk factors and cirrhosis-related disturbances in glucos…

CONTEXT: Confirmatory aldosterone suppression testing is widely utilized following positive screening for primary aldosteronism (PA), yet its incremental diagnostic value remains debated. While the 2025 Endocrine Society guideline proposes a probability-based approach, validated tools to translate this concept into clinical decision-making, particularly in Asian populations, are lacking. METHODS:…

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine neoplasms arising from the sympathetic and parasympathetic nervous systems. Their heterogeneous clinical behavior and metastatic potential present significant management challenges. Pseudohypoxia driven by oxygen metabolism dysregulation is the central oncogenic mechanism in Cluster 1 PPGLs, which carry the highest metastatic ri…

CONTEXT: Secondary diabetes mellitus occurs in 30-50% of patients with acromegaly despite a lean phenotype, whereas type 2 diabetes mellitus (T2DM) is associated with adiposity. OBJECTIVE: We compared mortality, morbidity and treatment patterns between patients with acromegaly-associated diabetes (ACRO-DM) and T2DM. DESIGN: Nationwide, retrospective, matched-cohort study in Sweden. METHODS: The A…

CONTEXT: Glucagon-like peptide-1 receptor agonists (GLP-1RAs), used to treat type 2 diabetes mellitus (T2DM) and obesity, have shown multi-organ benefits. However, their effects on bone are uncertain. GLP-1RAs may favor skeletal health through improved metabolic control, but substantial weight loss may increase bone loss and fracture risk. Understanding this balance between benefit and risk is an…

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.