ISSN 1662-4009 (online)

ey0019.8-4 | Important for Clinical Practice | ESPEYB19

8.4. A multi-classifier system to identify and subtype congenital adrenal hyperplasia based on circulating steroid hormones

L Ye , Z Zhao , H Ren , W Wang , W Zhou , S Zheng , R Han , J Zhang , H Li , Z Wan , C Tang , S Sun , W Wang , G Ning

J Clin Endocrinol Metab. 2022; dgac271. PMID: 35512387 https://pubmed.ncbi.nlm.nih.gov/35512387/Brief Summary: This study, in a series of independent patient cohorts, developed and validated a clinical score, based on the circulating concentrations of 13 major steroid hormones, to detect and subtype Congenital Adrenal Hyperplasia (CAH).Steroidogenesis is a complex proc...

ey0020.3-7 | Advances in Clinical Practice | ESPEYB20

3.7. Prevalence of monogenic bone disorders in a Dutch cohort of atypical femur fracture patients

W Zhou , JG van Rooij , DM van de Laarschot , Z Zervou , H Bruggenwirth , NM Appelman-Dijkstra , PR Ebeling , S Demirdas , AJ Verkerk , MC Zillikens

In Brief: Prolonged bisphosphonate treatment is associated with atypical femoral fractures (AFF). However, AFFs also occur in bisphosphonate-naïve patients, so bisphosphonate is not a prerequisite for AFF. This study found a higher yield of (likely) pathogenic variants in AFF patients with a clinical suspicion of monogenic bone disorder, stressing the importance of careful clinical evaluation of patients who present with this condition.Commentary: A...