hrp0092p1-259 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Disruption of Hypothalamic Regulation of Appetite Associated with Proton Beam Therapy

Sethi Aashish , Didi Mohammed , Mallucci Conor , Thorp Nicola , Hayden James , Pizer Barry , Blair Joanne

Introduction: Proton beam therapy (PBT) is being used increasingly for craniopharyngioma, as it is perceived to be a major benefit. There are some limited data relating to endocrine dysfunction following PBT, but very limited data on hypothalamic disturbance. Here we report two patients who presented with hypothalamic disruption immediately following PBT for craniopharyngioma.Case 1: A 12 year old girl presented with sei...

hrp0086p2-p840 | Syndromes: Mechanisms and Management P2 | ESPE2016

Testosterone Therapy Improves the First Year Height Velocity in Adolescent Boys with Constitutional Delay of Growth and Puberty

Giri Dinesh , Patil Prashant , Blair Jo , Das Urmi , Ramakrishnan Renuka , Dharmaraj Poonam , Didi Mohammed , Senniappan Senthil

Background: Constitutional Delay of Growth and Puberty (CDGP) is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed bone age and pubertal delay. CDGP can cause significant psychological stress and anxiety in adolescent boys. Although testosterone usage in this group has not been shown to affect the final adult height, the effect on the first year height velocity is not widely reported.Obj...

hrp0082p3-d3-655 | Autoimmune Endocrine Disease | ESPE2014

A Conservative Approach to the Management of Endocrine Neoplasia in Carney Complex in an Adolescent Male

Frerichs Carley , Didi Mohammed , Abernethy Laurence , Kenny Simon , Ellis Ian , Blair Joanne

Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushing’s syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.Objective and hypotheses: To describe conservative management of CC.<...

hrp0092p2-180 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Sudden Death in an Infant Attributed to Arrhythmia Associated with Beckwith-Wiedemann Syndrome due to Hypomethylation of Imprinting Control Region 2 on Chromosome 11p15.5

Petkovic Grace , Sethi Aashish , Apperley Louise , Senniappan Senthil , Blair Joanne , Kokai George , Didi Mohammed

Introduction: Hypomethylation at the imprinting control region 2 (IC2) on chromosome 11p15.5 is the commonest identifiable cause of Beckwith-Wiedemann Syndrome (BWS). IC2 is located in KCNQ1 intron 10 and is associated with Long QT syndrome (LQTS). A recent consensus statement on BWS1 recommends annual cardiac evaluation with electrocardiogram (ECG) in these patients. The natural history of LQTS secondary to hypomethylation at IC2 in BWS is...

hrp0092p2-190 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

Growth Hormone Therapy in Patients with Noonan Syndrome

Apperley Louise , Ramakrishnan Renuka , Dharmaraj Poonam , Das Urmi , Didi Mohammed , Blair Jo , Senniappan Senthil

Introduction: Noonan Syndrome (NS) is an autosomal dominant condition that affects 1 in 1000 to 2500 live births and is associated with short stature. Studies have shown that height velocity (HV) improved significantly with the use of growth hormone (GH) in the first year of treatment and sustained for the second year. We aimed to look at the effects of GH therapy in our cohort of patients with NS.Method: In this retrosp...

hrp0086p2-p51 | Adrenal P2 | ESPE2016

Bone Health Index in Children and Adolescents with Congenital Adrenal Hyperplasia

Alsaffar Hussain , Davies Rosie , Reed John , Das Urmi , Senniappan Senthil , Didi Mohammed , Blair Jo

Introduction: Patients with congenital adrenal hyperplasia (CAH) require life long glucocorticoid (GC) therapy. In CAH, the adverse effect of GC on bone health (BH) may be counteracted by the effect of modest elevations in adrenal androgens.Aim: To examine relationships between BH index (BHI) SDS, calculated by BoneXpert on bone age (BA) x-rays, BA, hydrocortisone (HC) dose (mg/m2 per day), and mean 17-hydroxyprogesterone (17-OHP) concentratio...

hrp0086p1-p371 | Gonads &amp; DSD P1 | ESPE2016

Androgen Profile Differs to Adults in Adolescent Girls with Polycystic Ovary Syndrome

Frerichs Carley , Das Urmi , Garden Ann , Williams Cara , Dharmaraj Poonam , Didi Mohammed , Ramakrishnan Renuka , Blair Jo

Background: Diagnostic criteria for polycystic ovarian syndrome (PCOS) are well established in the adult population, but may not be appropriate for adolescent girls. Clinical and/or biochemical hyperandrogenism is one important diagnostic criterion. Screening for hyperandrogenism is often restricted to measurements of testosterone in adult practice. It was our impression that this strategy would under-diagnose PCOS in our adolescent population.Objective ...

hrp0082p2-d3-480 | Hypoglycaemia | ESPE2014

The Role of Plasma C-Peptide Concentration in the Diagnosis of Congenital Hyperinsulinism

Green Julie , Giri Dinesh , Gangadharan Arundoss , Blair Jo , Dharmaraj Poonam , Das Urmi , Senniappan Senthil , Didi Mohammed

Background: The hallmark of congenital hyperinsulinism (CHI) is the demonstration of detectable plasma insulin during hypoglycaemia. Insulin can be undetectable in a significant proportion of patients with CHI. Plasma samples for insulin requires rapid and careful handling for reliable results. There is little published data on the value of C-peptide in the diagnosis of CHI.Objective and hypotheses: To assess the usefulness of C-peptide in the diagnosis ...

hrp0084p2-495 | Hypo | ESPE2015

Rapid Biochemical Evaluation Aids Timely Management of Congenital Hyperinsulinism

Swain Georgia , Park Julie , Stirrup Kelly , Yung Zoe , Senniappan Senthil , Didi Mohammed

Background: Congenital Hyperinsulinism (CHI) is the commonest cause of persistent neonatal hypoglycaemia and is characterised by inappropriately detectable plasma insulin during hypoglycaemia. Management depends on the timely analysis of biochemical parameters, which would help initiate appropriate management and avoid potential neurological compromise. The technical difficulties in sending the appropriate sample and the delay in processing the sample in the lab sometimes cont...

hrp0086rfc5.2 | Management of Disorders of Insulin Secretion | ESPE2016

Limits of Agreement between HbA1c Levels Measured in Different Laboratories Following the Introduction of the International Federation of Clinical Chemistry and Laboratory Medicine Standardised Values

Arch Barbara , McKay Andrew , Newland Paul , Blair Joanne , Gregory John , Peak Matthew , Didi Mohammed , Thornborough Keith , Gamble Carrol

Background: Between 2011 and 2015, 294 children from 15 UK centres were randomised to the SCIPI study (SubCutaneous Insulin: Pumps or Injections?), which compares insulin delivery by pump to multiple daily injections, during the first year following diagnosis of type I diabetes. HbA1c is measured every 3 months, locally by (1) a ‘point of care’ device or a local laboratory and (2) a central laboratory. Since 2009 HbA1c assays have been calibrated against the Internat...