Searchable abstracts of presentations at key conferences in endocrinology

ea0033p80 | (1) | BSPED2013

Endocrine manifestations of CHARGE syndrome

Kumaran Anitha , Kirk Jeremy

Introduction: CHARGE syndrome is a multi-organ disorder; 67% have mutations in the chromodomain gene CHD 7. Endocrine abnormalities are increasingly recognized and we report our experience in a tertiary endocrine unit.Methods/Study design: Children with CHARGE syndrome attending endocrine clinic were identified and data collected retrospectively from medical notes.Results: 31 patients (13 females) were identified. Mean age was 10.5...

ea0078oc1.2 | Oral Communications 1 | BSPED2021

Two cases of functioning adrenocortical tumours secondary to TP53 variants

Shaunak Meera , Davis Nikki , Kumaran Anitha

Introduction: We report the complexities in the management of two patients with functioning adrenocortical tumours (ACTs), presenting with features of androgen and cortisol excess, secondary to TP53 variants. Case report: Patient 1 presented with androgen excess (P1, TVs 2mls, penis 10 cm) aged 18 months. He was a known carrier of a maternally inherited TP53 variant. Adrenal androgens were elevated, with a DHEAS level of 86 umol/l (0.0-...

ea0078p21 | Diabetes | BSPED2021

A single-centre evaluation of telemedicine consultation and associated CO2 emissions for children and young people with diabetes

Andrews Edward , Catton Tim , Odeleye Esther , Kumaran Anitha , Trevelyan Nicola

Background: Telemedicine use has increased rapidly during the COVID-19 pandemic, replacing many face-to-face (FTF) consultations. FTF consultations are associated with increased CO2 emissions (CO2em) from travel to clinics. This study evaluates the triple bottom line of children and young people’s (CYP) and parent or guardian experience of a new telemedicine service, estimated CO2em saving from reduced travel and cost saving to families.Methods: Dat...

ea0085oc10.2 | Oral Communications 10 | BSPED2022

Patient and parent experiences with oral hydrocortisone formulations for adrenal insufficiency

Boulos Nabil , Davis Nikki , Kumaran Anitha , Davies Justin

Background: The choice of hydrocortisone (HC) formulation for children with adrenal insufficiency necessitates considerations for dose accuracy, palatability, and practicality in everyday life to optimise medicine adherence and health outcomes. Recently, several diverse new formulations have become available in the UK, but no information is available on real-life patient preferences for the different formulations.Objectives: Explore patient and parent ex...

ea0039ep80 | Miscellaneous/other | BSPED2015

Volumetric changes in the hippocampus and relationship to memory indices in children with hyperinsulinaemic hypoglycaemia and ketotic hypoglycaemia

Kumaran Anitha , Bullock Jemima , Kapoor Ritika , Chong Kling , Gadian David , Vargha-Khadem Faraneh , Hussain Khalid

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal. Hippocampus is known to be susceptible to hypoglycaemia, and is one of the key structures in the memory system. Our objective was to ascertain if children with HH sustain greater hippocampal injury and memory deficits in comparison to children with KH.Methods: Twenty on...

ea0033p23 | (1) | BSPED2013

Can we prevent hypoglycaemic brain injuries in term babies with no risk factors of Hyperinsulinaemic Hypoglycaemia?

Gilbert Clare , Morgan Kate , Hinchey Louise , Shah Pratik , Kumaran Anitha , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycemia (HH) represents the most common cause of hyperinsulinism in neonates, often termed as congenital hyperinsulinism of infancy (CHI). CHI is characterised by inappropriate raised insulin secretion from the pancreatic β-cells in relation to blood glucose concentration. Insulin suppresses NEFA and BOHB production. Neurological damage is a known risk associated with hyperinsulinaemic hypoglycaemia (HH).Aim: To ...

ea0033p53 | (1) | BSPED2013

Rapid molecular genetic diagnosis aiding personalised treatment of 5-α reductase type 2 deficiency

Kumaran Anitha , Parajes Silvia , Cole Trevor R , Hogler Wolfgang , Kirk Jeremy , Krone Nils

Introduction: Steroid 5-α reductase type 2 deficiency causes 46,XY disorder of sex development (DSD) and is an autosomal recessive disorder resulting from mutations in the SRD5A2 gene. SRD5A2 facilitates the conversion of testosterone to dihydrotestosterone (DHT), crucially required for masculinisation of external genitalia. Thus 46,XY individuals with SRD5A2 mutations present with varying severity of undermasculinisation.We descri...

ea0033p79 | (1) | BSPED2013

Use of prolactin concentrations in disorders of pituitary function and optic nerve hypoplasia

Narayanan Vidya K , Kumaran Anitha , Khan Seher , Hogler Wolfgang , Kirk Jeremy

Introduction: Measurement of the anterior pituitary hormone prolactin is often performed in patients with pituitary pathology. Mild hyperprolactinemia occurs in subjects with hypothalamic disorders and/or pituitary stalk dysfunction, and is also described in patients with isolated optic nerve hypoplasia (ONH), this is proposed to be due to decreased dopaminergic tone.Objective: To assess prolactin levels in patients with septo-optic dysplasia (SOD) (with...

ea0027p23 | (1) | BSPED2011

CHARGE syndrome: experience of a tertiary Endocrine Centre

Kumaran Anitha , Lazzeroni Pietro , Brain Caroline , Hussain Khalid , Kapoor Ritika R , Dattani Mehul

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

ea0027p79 | (1) | BSPED2011

Clinical characterisation of hyperinsulinaemic hypoglycaemia associated with intra-uterine growth restriction

Kapoor Ritika , Flanagan Sarah , Kumaran Anitha , Shield Julian , Ellard Sian , Hussain Khalid

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...