Endocrine Abstracts

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Polycystic ovarian syndrome (PCOS) is one of the commonest endocrine disorders of young women, and the commonest cause of reduced fertility in this age group. There are fundamental metabolic disturbances integral to the syndrome that lead to significant cardiovascular risk, and these include obesity, insulin resistance, beta cell dysfunction, impaired glucose tolerance and type 2 diabetes, dyslipidemia, hypertension, obstructive sleep apnoea, a pro-coagulant state, and endothe...

Background: Alstrom syndrome (AS) is a very rare multisystem disorder secondary to mutations in the ALMS1 gene, associated with infantile cardiomyopathy, retinal dystrophy, early onset obesity, and diabetes. Whilst a previous international review, including 35 males, cited pubertal delay and hypogonadism to be common, no detailed characterisation of puberty exists. This retrospective longitudinal analysis aims to describe puberty in boys with AS.<p class="...

Introduction: Rare genetic overgrowth disorders are a group of conditions characterised by height and/or head circumference >2 S.D. above the mean for age and sex, learning disability, congenital anomalies, and in some cases childhood tumours. POD is a national cohort study that includes a next generation sequencing (NGS) panel of overgrowth genes. We present a new model for clinical confirmation of pathogenic variants identified by this research panel. Clin...

Introduction: The pathogenesis of short stature and growth failure in Turner syndrome (TS) is multifactorial, and includes low birthweight, ovarian failure and skeletal dysplasia. Although abnormalities of the GH-IGF1 axis are implicated, patients are not GH-deficient (GHD) and consequently non-GHD doses of GH are utilised ie. 45–50 μg/kg per day or 9.8 mg/m2 per week. Although initially used in GHD patients, IGF1 titration is increasingly being used in al...

Introduction: Prader–Willi syndrome (PWS) is characterised by hypotonia, obesity, short stature, and hypogonadism probably due to hypothalamic dysfunction (hypogonadotropic hypogonadism (HH)). Exaggerated adrenarche is however commonly noted in these patients. Early puberty is rarely described: we report two girls with PWS diagnosed with premature sexual maturation.Case reports: Case 1: this 8-year-old girl was neonatally diagnosed with PWS (materna...

Introduction: NICE recommends annual screening for diabetic retinopathy in children with type 1 diabetes aged over 12 years and/or with duration of diabetes over 5 years. This audit aimed to evaluate patient attendance for retinopathy screening, to identify the prevalence of retinopathy and maculopathy and to ascertain characteristics of patients.Methods: This was a retrospective audit of patients attending for eye screening from January 2008 to April 20...

Introduction: NICE recommends specific annual health checks for children and young people (CYP) with diabetes aged 12 years and over to check for health of feet, kidneys, thyroid and eyes in addition to BP, BMI and HbA1c. Historically, we included annual review care processes into regular diabetes multi-disciplinary clinics. In 2017, our service was identified as negative outlier in the National Paediatric Diabetes Audit for completion of health care processes. In particular, ...

Aim: To describe the prevalence and natural history of retinopathy in a cohort of children and young people with type 1 diabetes attending a tertiary hospital diabetes clinic.Methods: We analysed follow-up data from 2008 to 2010 on all children eligible for retinopathy screening using the ‘Twinkle’ diabetes database and the regional retinal screening database.Results: 88% (149/169) of eligible children were screened in 20...

Introduction: The National Paediatric Diabetes Audit consistently highlights disparity in Type 1 diabetes outcomes with a higher mean HbA1c observed in the most deprived socioeconomic groups. During COVID concerns escalated as the impact of lockdowns on socioeconomic deprivation had potential to inflate pre-existing health divides. Our study aimed to assess care provided and impact of socioeconomic background on diabetes outcomes through COVID in a large terti...