Endocrine Abstracts

Background: Recent evidence highlights the dramatic loss of trabecular bone following loss of ambulation in people with DMD. An opportunity to introduce osteoporosis therapy without fractures is when loss of ambulation is imminent. There is a need to explore biomarkers to predict loss of ambulation, that can be assessed in the clinic, to guide such discussions.Methods: A retrospective study was conducted in 26 boys with DMD treated with daily glucocortic...

Introduction: BSPED standards for the management of infants or adolescents presenting with suspected differences in sex development were developed in 2017, aimed at identifying optimal service requirements to provide best clinical practice and ensure equity of access. They were audited 2019 and reaudited in 2023.Aim: To document structures of UK DSD care delivery, assess current service provision against benchmarks and share best practice to support impr...

Background: Recent studies have demonstrated an increased risk of cardiovascular disease in transgender adults compared to the cisgender population. It remains uncertain whether this increased risk is due to hormonal treatment or if individuals with gender dysphoria inherently have a higher baseline risk for cardio-metabolic complications. Within the UK, until recently, following confirmation of diagnosis according to WPATH criteria, gonadotropin-releasing hormone analogues (G...

Introduction: Ovarian insufficiency in Turner Syndrome (TS) classically presents with absent puberty and primary amenorrhea. However, a proportion attain menarche spontaneously, with later reproductive phenotypes ranging from early-onset secondary amenorrhea, to ongoing menstrual cycles, to spontaneous pregnancies. TS karyotypes include monosomy X (45,X); X chromosome mosaicism (e.g., 45,X/46,XX); and X chromosome rearrangements (e.g., ring X). The additional X chromosome gene...

Background: Silver-Russell Syndrome (SRS) is a complex multi-system condition and timely diagnosis is important for appropriate management, access to therapy and to reduce the burden of diagnostic uncertainty. A clinical diagnosis is made using the Netchine-Harbison Clinical Scoring System (NH-CSS) with a score ≥4, and (epi)genetic investigation is recommended in those with an NH-CSS ≥3. A molecular defect is identified in ~60% of SRS cases. Monogenic defects in im...