Endocrine Abstracts

Background: Sequencing of Primary Ovarian Insufficiency cohorts have identified variants in >100 “POI genes” in up to 50% of women but establishing pathogenicity is challenging. Early-onset POI (EO-POI; adolescents) may have a distinct genetic profile.Methods: We performed exome sequencing (Nonacus) in an EO-POI cohort. Filtering (QCI) retained variants which were 1) rare/novel (MAF<0.01%), 2) predicted pathogenic in silico, 3)...

Objectives: The IMPACT Survey explored self- and proxy-reported experiences of the clinical, humanistic, and economic impact of osteogenesis imperfecta (OI), a rare hereditary connective tissue disorder associated with low bone mass, bone fragility and variable secondary features. While the risk of fractures in children with OI has been well documented in previous studies, this analysis explores the prevalence and impact of OI-related clinical signs, symptoms and events (SSEs)...

Introduction: In up to 50 percent of Cushing’s disease patients, corticotroph adenomas are not clearly identified on MRI and long-term medical treatment to lower cortisol may be needed. Osilodrostat, which inhibits 11 beta hydroxylase, is effective in normalising urinary free cortisol (UFC). We are the UK’s first centre to use osilodrostat for Cushing’s disease in MRI negative patients.Method: Five patients (one male) with Cushing’s d...

Background: PTMCs are papillary thyroid carcinoma nodules measuring ≤1cm. While the American Thyroid Association (ATA) do not recommend biopsy or follow-up for PTMC nodules, classifying it as a benign condition, some individuals develop cervical lymph node metastases (LNM), challenging its benign classification. Methods: We identified 52 cases of PTMC among 2,000 thyroid patients from 156 MDT meetings at Cork University Hospital (CUH) between Janua...