hrp0095p1-447 | Diabetes and Insulin | ESPE2022

Access and use of new technologies in diabetes care in patients that need an Interpreter compared to those that do not

Ayya Mekhala , Chizo Agwu Juliana

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...

hrp0092p2-210 | Multisystem Endocrine Disorders | ESPE2019

Autoimmune Thyroiditis and Autoimmune Hepatitis Presenting at Onset of Type 1 Diabetes (T1D)

Marchant Alice , Chizo Agwu Juliana

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...

hrp0086p1-p363 | Gonads & DSD P1 | ESPE2016

Mosaic Xq Partial Duplication Leading to Virilisation of an Adolescent Female

Baranowski Elizabeth , Chizo Agwu Juliana

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...

hrp0092p2-18 | Adrenals and HPA Axis | ESPE2019

A Rare Case of Pseudohypoaldosteronism in a Neonate Secondary to Congenital Hydrometrocolpos

Kumar Shruti , McDermott Helen , Kamupira Sheilah , Chizo Agwu Juliana

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)...

hrp0086p1-p206 | Diabetes P1 | ESPE2016

When to Screen for Coeliac Disease in Children with Type 1 Diabetes Mellitus: The Controversy

Ajanaku Ayo , Gorst Thomas , Ajanaku Deji , Chizo Agwu Juliana

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...

hrp0084p3-688 | Diabetes | ESPE2015

Management of Children with Type 1 Diabetes During Illness (Sick Days): Is There a Need for National Consensus Guideline?

Soni Astha , Agwu Chizo , Wright Neil , Moudiotis Chris , Kershaw Melanie , Edge Julie , Drew Josephine , Ng Sze May

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...

hrp0097p1-109 | Growth and Syndromes | ESPE2023

Unique proteomic signatures of Noonan Syndrome-associated LZTR1 variants detected by phosphopeptide analysis

Chatterjee Sumana , Bertola Débora , Agwu Chizo , Shapiro Lucy , Gaston-Massuet Carles , Metherell Louise , Maharaj Avinaash , Storr Helen

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 ...

hrp0094p2-287 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Novel LZTR1 mutations in subjects with features of Noonan Syndrome and GH insensitivity negatively regulate GH-induced IGF-I production and hyperactivate GH-induced ERK1/2 activation in response to GH in vitro

Chatterjee Sumana , Romeo Bertola Debora , Agwu Chizo , Maharaj Avinaash , Williams Jack , Cottrell Emily , Shapiro Lucy , Andrews Afiya , Savage Martin O. , Gaston-Massuet Carles , Metherell Louise A. , Storr Helen L. ,

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...