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: Adequate sick day management at home may reduce the risk of progression to diabetic ketoacidosis (DKA) and admission to hospital. The UK does not have a consensus guideline for sick day management advice to children and young people with type 1 diabetes mellitus (T1DM). Children’s diabetes services vary in their practice of education and advice in the use of urine or blood ketone monitoring during illness.Objective and hypotheses: The ai...

Background: Noonan syndrome (NS) is caused by variants in multiple genes regulating the RAS/MAPK signalling cascade. NS can present with growth failure associated with growth hormone insensitivity (GHI; low IGF-I and normal/elevated GH levels). Variants in LZTR1 lead to NS, although the interaction of LZTR1 with the RAS/MAPK and the GH-IGF-1 pathways remain to be elucidated.Objectives: To gain insights into the ...

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...

Background: Noonan Syndrome (NS) can overlap clinically and biochemically with growth hormone insensitivity [GHI; short stature (SS), low IGF-I and normal/elevated GH levels]. Mutations in multiple genes regulating RAS/MAPK pathway have been identified in NS including LZTR1 variants. Function of LZTR1 is poorly understood and its role in growth retardation is unknown.Objectives: To functionally characte...