ESPE Abstracts

Young people with Type 1 Diabetes Mellitus encounter daily struggles with titrating insulin to achieve adequate glycemic control. Technology is improving with insulin pumps and continuous glucose monitoring (CGM) however access to it remains variable across the UK. Those from ethnic minorities and deprived areas are less likely to access technology and more susceptible to developing complications of diabetes with worsening HbA1c’s. Understanding the reasons for health in...

Background: Autoimmune disease (AD) occurs due to loss of immunological tolerance to self-antigens and can be organ specific or systemic. One in four patients with a single AD may develop another AD. The presence of three or more AD is described as multiple autoimmune syndrome (MAS) in which Type 3 subset includes autoimmune thyroiditis and T1D, but not autoimmune hepatitis. Type 2 Autoimmune Polyendocrine Syndrome can be diagnosed when T1D and autoimmune thyr...

Background: We present a 17-year-old female who presented with a 1 year history of hirsutism, male pattern baldness, marked cystic acne and mild cliteromegaly. She had her menarche at the age of 15 years and continued thereon to have a regular menstrual cycle. She was pubertal on examination (B3, P5, A5) with no neurological deficit.Objective and hypotheses: This female presented with marked clinical hyperandrogenism. We initially suspected polycystic ov...

Background: Hydrometrocolpos is a condition resulting in distension of the vagina and uterus due to accumulation of secretions (other than blood), caused by increased oestrogenic stimulation and vaginal outflow obstruction. The incidence in term neonates is 0.00014-0.001%. The condition presents at extremes of childhood, at birth when maternal circulating hormones are raised and at menarche when oestrogen production commences. Pseudohypoaldosteronism (PHA)...

Background: Routine screening for Coeliac disease (CD) beyond the first year of diagnosis with Type 1 Diabetes Mellitus (T1DM) is controversial due to a paucity of high-quality evidence. The UK guidelines (NICE) only recommend screening at diagnosis with T1DM or if subsequently symptomatic; whereas the International Society for Paediatric and Adolescent Diabetes (ISPAD) recommends routine screening every 1 to 2 years.Objective and hypotheses: We hypothes...

Background: The underlying pathogenic mechanisms governing growth restriction of Noonan syndrome (NS) remain elusive. Monoallelic inactivating LZTR1 gene variants have been implicated as a cause of NS due to hyperactivation of the canonical RAS-MAPK signalling pathway. Missense LZTR1 variants have been associated with defective ubiquitination theoretically leading to increased Ras substrate availability. Ubiquitination is implicated in growth...