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...

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...

hrp0084p2-496 | Perinatal | ESPE2015

Serial 3-Dimensional Ultrasonographic Evaluation of Foetal Adrenal Volumes in the 2nd and 3rd Trimester of Pregnancy Characterises Human Adrenal Development in utero

Baftic Nerma , Katugampola Harshini , Meso Muriel , Allen Rebecca , Marleen Shemoon , Elahi Shezan , Aquilina Joe , Dunkel Leo , Storr Helen

Background: The human foetal adrenal (FA) undergoes vast physiological changes as pregnancy progresses. Original descriptions of FA development emerged following morphometric studies from spontaneous/medical terminations. These revealed the greatest increase in FA size was during the first trimester. Recently, sonographic evaluation of human FA volume and length has led to the creation of normal FA growth centiles and correlations between FA size and estimated foetal weight (E...

hrp0094p1-84 | Pituitary A | ESPE2021

Pituitary Duplication – A rare and heterogenous spectrum

Goff Nicole , Murphy Nuala , Schwitzgebel Valerie , Castets Sarah , Katugampola Harshini , Stojanovic Marko , Petakov Milan , Gevers Evelien , Dattani Mehul ,

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

hrp0094p1-101 | Adrenal B | ESPE2021

The management of adrenal cell carcinoma in a single tertiary centre: 25 year experience

Goff Nicole , Hughes Claire , Katugampola Harshini , Mushtaq Imran , Hindmarsh Peter , Peters Catherine , Brain Caroline , Jorgensen Mette , Dattani Mehul ,

Background: Adrenal cortical carcinoma (ACC) in children is rare and aggressive, with the mainstay of treatment being surgical resection, although there have been recent improvements in outcomes with chemotherapy. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations prior to surgery, and post-operative decrease in cortisol can be chal...