hrp0082p3-d3-848 | Growth (2) | ESPE2014

Severe Short Stature with Features of Achondroplasia, Later Diagnosed as Panhypopituitarism: a Case Report

Matei Cristina , Karam Maria , Peters Catherine

Background: Severe short stature is considered when height falls below −4 SDS. When infants with extreme short stature are evaluated, often multidisciplinary input is required, before a formal diagnosis is met.Objective and hypotheses: We want to learn from delayed diagnosis of child with panhypopituitarism and review subsequent difficulties in starting GH treatment.Method: Retrospective review of notes, investigations and pa...

hrp0084p3-1207 | Thyroid | ESPE2015

Neonatal Hyperthyrotropinaemia – Watchful Waiting vs Treatment: Experiences from a Tertiary Centre

Ponmani Caroline , Peters Catherine , Langham Shirley

Background: Neonatal hyperthyrotropinaemia (HT) is defined by elevated TSH and normal fT4. HT is an increasingly common diagnosis and may be transient or permanent. There is a often a diagnostic dilemma whether to treat to prevent subclincal hypothyroidism or to wait thereby avoiding the risks of iatrogenic hyperthyroidism.Objective and hypotheses: To examine a large population of infants referred to a tertiary centre over one year and determi...

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 ...

hrp0086p2-p954 | Thyroid P2 | ESPE2016

Hearing, Language and Communication Abilities in Children with Congenital Hypothyroidism

Cooper Hannah , Peters Catherine , Halliday Lorna , Bamiou Doris-Eva , Clark Christopher

Background: Thyroid hormones are essential in the regulation of foetal and post-natal neurodevelopment. Despite early diagnosis and treatment of congenital hypothyroidism (CH) difficulties with language, hearing, memory and motor function persist for some children. However, comprehensive data about hearing, language and communication function in children with CH are not widely available.Objective and hypotheses: To evaluate hearing, language and communic...

hrp0094p1-27 | Diabetes A | ESPE2021

The SARS-CoV-2 Pandemic Is Associated With Increased Severity Of Presentation Of Childhood Onset Type 1 Diabetes Mellitus: A Multicentre Study Of The First COVID-19 Wave

McGlacken-Byrne Sinead M , Drew Samantha EV , Turner Kelly , Peters Catherine , Amin Rakesh ,

Objective: Children are usually mildly affected by Severe Acute Respiratory Syndrome Coronavirus 2 infection (SARS-CoV-2, COVID-19). However, the pandemic has impacted negatively on children with non-COVID-19 diseases. We aimed to determine the impact of the COVID-19 pandemic on the presentation of newly diagnosed childhood-onset type 1 diabetes.Methods: This was a cross-sectional study conducted over a one-year period. ...

hrp0094p1-70 | Diabetes B | ESPE2021

Change in HbA1C predicts future abnormal Oral Glucose Tolerance Tests in children and adolescents with Cystic Fibrosis.

Aftab Sommayya , Ghauri Rooha Ijaz , Drew Samantha , Meek Hannah , Peters Catherine , Amin Rakesh ,

Background: Oral glucose tolerance test (OGTT) is the screening test of choice for Cystic Fibrosis Related Diabetes (CFRD). HbA1C is considered unreliable in diagnosing CFRD because of increased cell turn over in children and adolescents with Cystic Fibrosis (CF).Objective: To determine the validity of HbA1C as a predictive tool for future abnormal OGTT in CF.Material & Methods: Data were colle...

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...

hrp0084p2-471 | Growth | ESPE2015

Growth and Metabolic Phenotypes in Patients with SRS: a Multi-Centre Cross-Sectional Observational Study

Aston Kayleigh , Grosvenor Gemma , Peters Catherine , Mathew Verghese , Blair Joanne , Chapman Simon , Buchanan Charles , Maher Eamonn , Dias Renuka

Background: Silver–Russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify i) response to GH based on genotype and ii) devel...

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...