Searchable abstracts of presentations at key conferences in endocrinology

ea0078oc3.2 | Oral Communications 3 | BSPED2021

Variable responses to sulfonylurea treatment in siblings from the same family with monogenic diabetes due to HNF1A mutation

Franklin Natasha , Hawton Katherine , Giri Dinesh

Background: Maturity onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance, onset before 25 years of age, absence of β-cell autoimmunity, and sustained pancreatic β-cell function. HNF1A mutations account for 70% of MODY cases. Patients with HNF1A MODY are sensitive to sulfonylureas (SU) and can maintain optimal glycaemic control with SU rather than insulin. We describe 2 siblings from the same family with HNF1A</e...

ea0078OC6.3 | Oral Communications 6 | BSPED2021

Topiramate as a treatment option in managing obesity complicated by idiopathic intracranial hypertension and chronic migraine in children and adolescents

Mathews Rhianwen , Syed Amber , Amin Sam , Shield J.P.H , Giri Dinesh

Background: Childhood obesity is associated with multitude of co-morbidities. Idiopathic intracranial hypertension (IIH) is one of the less common co-morbidities in children and young people. Severe migraine has been postulated as a further association. We report our experience of using topiramate for managing obesity associated IIH and severe persistent migraine.Cases: Case One: A 12 year old boy was referred with morbid obesity, systemic hypertension a...

ea0078OC8.5 | Oral Communications 8 | BSPED2021

Permanent neonatal diabetes due to KCNJ11 mutation: early successful transition to Glibenclamide and stable glucose profile with multiple daily dosing

Hawton Katherine , Adams Rebekah , Dustan Emily , Giri Dinesh

Introduction: Neonatal diabetes (ND) usually presents before 6 months of age and 50% of cases are transient and 50% permanent with more than 20 known genetic causes. Early recognition and urgent genetic testing are important to enable appropriate, precise treatment. Mutations in KCNJ11 cause ND responsive to glibenclamide, alleviating the need for insulin administration, but there are limited reports of early successful transition.Case: This inf...

ea0078p45 | Miscellaneous | BSPED2021

Heterozygous mutations in ATP-sensitive potassium channel (KATP) genes associated with transient and mild hyperinsulinaemic hypoglycaemia

Siese Thomas , Alins-Sahun Yolanda , Crowne Elizabeth , Giri Dinesh

Introduction: Congenital hyperinsulinism (CHI) is a rare disease, characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia during the neonatal period and early childhood. Mutations in KATP < genes (ABCC8 and KCNJ11), together account for up to 70% of CHI. CHI can either be transient or persistent. Transient CHI tends to resolve spontaneously and is n...

ea0051p021 | Miscellaneous/other | BSPED2017

Novel splicing mutation in B3GAT3 associated with short stature, GH deficiency, hypoglycaemia, developmental delay and multiple congenital anomalies

Bloor Samuel , Giri Dinesh , Didi Mohammed , Senniappan Senthil

Introduction: B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities and congenital heart defects. We describe for the first time, a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism and conge...

ea0051p064 | Diabetes | BSPED2017

Hyperinsulinism Hyperammonemia (HI/HA) syndrome due to GLUD1 mutation: Phenotypic Variations Ranging from Late Presentation to Spontaneous Resolution

Brandt Agnieszka , Giri Dinesh , Yung Zoe , Didi Mohammad , Senniappan Senthil

Introduction: The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common cause of hyperinsulinemic hypoglycaemia (HH), caused by activating mutations in GLUD1 [which encodes the mitochondrial enzyme glutamate dehydrogenase (GDH)].Methods: We describe phenotypic variations in three patients from 3 non-related families with HI/HA syndrome due to GLUD1 mutation.Results: Patient 1, a 10-year-old Cau...

ea0085oc1.2 | Oral Communications 1 | BSPED2022

A rare case of short stature with high total insulin like growth factor 1 (IGF-1) and a novel pregnancy-associated plasma protein A2 (PAPPA2) gene mutation

Chatterjee Sumana , Maharaj Avinaash , Storr Helen , Giri Dinesh

Background: PAPP-A2 is a protease which helps to release IGF-1 from a ternary complex by cleaving the IGF binding proteins (IGFBP-3 and -5). Free IGF-1 subsequently binds to its receptor resulting in cell proliferation and growth. Homozygous loss-of-function PAPPA2 mutations lead to low IGF-1 bioavailability and postnatal short stature (SS). Recombinant human IGF-1 (rhIGF-1) treatment improves height SDS in few patients. We report a patient with SS and high plasma tot...

ea0085oc7.5 | Oral Communications 7 | BSPED2022

Monogenic obesity is probably not so rare - experience from a large tier 3 paediatric weight management service

Hawton Katherine , Hickingbotham Hannah , Hamilton-Shield Julian , Giri Dinesh

Background: Monogenic obesity is generally considered to only be responsible for a small proportion of genetic obesity with the vast majority attributable to polygenic obesity. Previous studies estimate that monogenic obesity accounts for less than 5% of obesity in Caucasian populations.Aims and method: To identify prevalence and clinical characteristics of monogenic obesity, we reviewed clinical notes of 219 patients currently, or recently (within 24 mo...

ea0039oc1.2 | Oral Communications 1 | BSPED2015

Delayed puberty due to a non-functioning pituitary adenoma

Giri Dinesh , Price Victoria , Sinha Ajay , Didi Mohammed , Senniappan Senthil

Background: Constitutional delay of growth and puberty (CDGP) is the commonest cause of delayed puberty in boys and differentiation of CDGP from other causes of delayed puberty can sometimes be challenging. We report a boy with delayed puberty due to a pituitary adenoma.Case: A 15-year-old boy was referred for endocrinology consultation with concerns regarding short stature and delayed puberty. There was no history or laboratory evidence suggestive of ch...

ea0039ep109 | Pituitary and growth | BSPED2015

A rare case of congenital hyperinsulinism associated with hypopituitarism due to pituitary stalk interruption syndrome

Alsaffar Hussain , Phanse Suprya , Giri Dinesh , Didi Mohammed , Senniappan Senthil

Introduction: Congenital hyperinsulinism (CHI) is a rare genetic disorder that is characterised by persistent hypoglycaemia in infants and children. We are reporting a rare case of diffuse CHI who was also found to have hypopituitarism and several other congenital anomalies. A similar association has not been reported in literature.Case: A female baby was born at 42 weeks gestation with a birth weight of 4.185 kg (1.72 SDS). She suffered shoulder dystoci...