hrp0082fc10.1 | Programming & Early Endocrinology | ESPE2014

A Role for Delta-Like Homologue 1 in a Secretory Placental Population and Implications for Foetal Growth

Meso Muriel , Katugampola Harshini , Storr Helen , Dunkel Leo , Charalambous Marika

Background: Delta-Like Homologue 1 (DLK1) is a gene encoding a transmembrane protein, which may also be secreted into the circulation. DLK1 levels are known to rise in maternal serum during late gestation and our genetic studies in the mouse have shown that this DLK1 arises from the conceptus. However, the cell population that secretes DLK1 into the maternal circulation has not been identified. Since DLK1 has been shown to be differentially expressed in intrauterine growth res...

hrp0089fc14.2 | Multisystem Endocrine Disorders | ESPE2018

National UK Guidelines for the Clinical Assessment, Diagnosis, Treatment and Follow-up of Children and Young People (CYP) Under 19 Years of Age with Phaeochromocytoma (PCC) and Paraganglioma (PGL) – On Behalf of the UK Paediatric Phaeochromocytoma and Paraganglioma Guideline Development Group (GDG)

Katugampola Harshini , Marks Stephen , Quek Samuel , Yadav Prateek , Spoudeas Helen A , Harrison Barney

Background: PCC and PGL are rare in CYP. National children’s registry data reveal an annual incidence of 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition, can present with non-specific symptoms, and represent a significant management challenge.Aims: We aimed to provide the first interdisciplinary national management guidelines using the AGREEII framework for CYP with con...

hrp0094fc8.5 | Neuroendocrinology | ESPE2021

Bardet-Biedl Syndrome: A retrospective study of progression through puberty

Whitehead Jennifer , Schoeneberg Dillon , Sparks Kathryn , Forsythe Elizabeth , Beales Philip , Peters Catherine , Dastamani Antonia , Katugampola Harshini ,

Introduction: Bardet-Biedl syndrome (BBS) is a rare, pleiotropic, autosomal recessive disorder, with prevalence between 1 in 100,000 – 160,000 in Europe and the USA. It is characterised by 6 cardinal features: rod-cone dystrophy, truncal obesity, cognitive impairment, hypogonadism and genitourinary anomalies, postaxial polydactyly and renal dysfunction, as well as a plethora of secondary features spanning multiple body systems. BBS belongs to a family of ...

hrp0094p2-8 | Adrenals and HPA Axis | ESPE2021

High-dose steroids in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS): Considering the hypothalamic-pituitary-adrenal axis

McGlacken-Byrne Sinead M , Johnson Mae , du Pre Pascale , Katugampola Harshini ,

Background: Steroid therapy has been used as a therapeutic strategy in the management of Paediatric Multisystem Inflammatory Syndrome Temporally associated with SARS-CoV-2 (PIMS-TS) with good effect. However, as always, exogenous steroid administration carries with it a risk of iatrogenic adrenal insufficiency.Aim: We characterise steroid therapy use in PIMS-TS and consider implications for hypothalamic-pituitary-adrenal...

hrp0095p1-7 | Adrenals and HPA Axis | ESPE2022

Management of mineralocorticoid deficiency in Congenital Adrenal Hyperplasia – a single centre study

Shan Queenie See Wing , Alexander Ashley , Katugampola Harshini , Atterbury Abigail , Tollerfield Sally , Dattani Mehul

Introduction: Glucocorticoid replacement has been the main focus of research in congenital adrenal hyperplasia (CAH). However, few studies have focused on mineralocorticoid replacement.Aim: Evaluation of mineralocorticoid replacement in a large cohort (n=124) with CAH recruited retrospectively over a 10-year (2010-2020) period.Methods: We recruited 124patients (71female, 5...

hrp0095p1-143 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Use of the 100,000 Genomes Project to identify the molecular basis of rare endocrine disorders within a tertiary paediatric endocrinology centre

M McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Wakeling Emma , Katugampola Harshini , T Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) recently investigated the genetic basis of rare disease using whole genome sequencing. The genetic aetiology of most rare paediatric endocrine disease remains unexplained.Methods: Children with genetically unexplained rare endocrine disease attending a subspecialist paediatric endocrinology clinic underwent whole genome sequencing as part of the 100KGP. Parental DNA w...

hrp0095p1-146 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Spectrum of Endocrinopathy in Children with Ectopic Posterior Pituitary (EPP)

Malhotra Neha , Amin Arliena , Cerbone Manuela , Bosch Laura , Tollerfield Sally , Atterbury Abigail , Katugampola Harshini , Dattani Mehul

Introduction: Ectopic posterior pituitary (EPP) is a radiological diagnosis likely caused by a migration defect that occurs during pituitary development. We aim to describe the clinical characteristics and hormonal deficiencies seen in patients with EPP.Method: Longitudinal observational study performed in a single [HK1] [NM2] centre from 1993-2020. As per MRI findings, cases were divided into three cohorts 1) C1: EPP on...

hrp0089p2-p185 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Nifedipine Therapy in Hyperinsulinaemic Hypoglycaemia Due to Mutations in the PMM2 Gene Improves Fast Tolerance, Stabilises Blood Glucose Profile, and Enables Rationalisation of Treatments for Glycaemic Control and Hypertension: The First Reported Trial in 3 Patients in a Tertiary Centre

Katugampola Harshini , Guemes Maria , Aftab Sommayya , Malhotra Neha , Gilbert Clare , Morgan Kate , Bockenhauer Detlef , Dattani Mehul , Shah Pratik

Background: Hyperinsulinaemic hypoglycaemia (HH) is the most frequent cause of severe and persistent hypoglycaemia in infancy. Prompt recognition and successful management are critical to ensure prevention of hypoglycaemic brain injury and neurological sequelae. The incidence of HH varies from 1:50,000-1:2,500, and mutations in at least 12 different genes involved in β-cell insulin release have been described. Recently, the spectrum of genetic causes for HH has been exten...

hrp0084p1-100 | Perinatal | ESPE2015

Atypical Features in Patients with Leprechaunism Suggesting a Wide Clinical Spectrum of Disease

Katugampola Harshini , Improda Nicola , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Typical features include pre-/postnatal growth impairment, hyperinsulinaemic hyperglycaemia with fasting hypoglycaemia, nephrocalcinosis, recurrent sepsis, little adipose tissue, soft tissue overgrowth, hirsutism, acanthosis nigricans and facial dysmorphism. However, additional comorbidities may be present, affecting prognosis.<...

hrp0084p2-250 | Diabetes | ESPE2015

Recombinant Human IGF1 Treatment in Patients with Insulin Receptor Mutations Resulting in Donohue Syndrome: A 10-Year Experience in a Tertiary Centre

Improda Nicola , Katugampola Harshini , Shah Pratik , Gordon Hannah , Amin Rakesh , Peters Catherine J , Semple Robert K , Dattani Mehul T

Background: Donohue syndrome (DS) is the most severe form of insulin-resistance due to autosomal recessive mutations in the insulin receptor gene. Previous reports demonstrate a role for recombinant human IGF1 (rhIGF1), however optimal treatment strategy remains unclear.Case series: Four males with DS have been treated with bolus rhIGF1 (see table below). They had no IGF1 response on an IGF1 generation test. No long-term side effects of rhIGF1 were repor...