hrp0094p2-375 | Pituitary, neuroendocrinology and puberty | ESPE2021

Salivary sex steroids as markers of puberty in boys during late childhood and adolescence

Patjamontri Supitcha , Spiers Alexander , Smith Rachel B , Shen Chen , Adaway Jo , G Keevil Brian , Toledano Mireille B , Ahmed S Faisal ,

Introduction: Salivary androgens represent a non-invasive marker of puberty that may have utility in population studies as well as in the clinical arena.Objectives: To establish normal reference values of salivary androgens using LC-MS/MS and demonstrate the correlations between salivary androgens and pubertal development in boys.Methods: School-based adolescent cohort study with t...

hrp0094fc1.1 | Adrenal | ESPE2021

Salivary profiles of 11 oxygenated androgens follow a diurnal rhythm in patients with congenital adrenal hyperplasia

Nowotny Hanna F. , Auer Matthias K. , Lottspeich Christian , Schmidt Heinrich , Dubinski Ilja , Bidlingmaier Martin , Adaway Jo , Hawley James , Keevil Brian , Reisch Nicole ,

Background: Routine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17 hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11 oxygenated 19 carbon (11oxC19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen excess in patients with 21-hy...

hrp0092rfc13.2 | Adrenals and HP Axis | ESPE2019

Development of Novel Non-Invasive Strategies for Monitoring of Treatment Control in Patients with Congenital Adrenal Hyperplasia

Bacila Irina-Alexandra , Adaway Jo , Hawley James , Mahdi Sundus , Acerini Carlo L , Krone Ruth , Patel Leena , Alvi Sabah , Randell Tabitha , Gevers Evelien , Dattani Mehul , Cheetham Timothy , Kyriakou Andreas , Schiffer Lina , Ryan Fiona , Crowne Elizabeth , Davies Justin H , Ahmed S Faisal , Keevil Brian , Krone Nils P

Introduction: Glucocorticoid treatment remains a challenging aspect in the management of congenital adrenal hyperplasia (CAH). Current strategies for monitoring treatment are suboptimal and rely largely on frequent blood tests, which are traumatising in children and young persons (CYP). Recent evidence indicates a crucial role of 11-oxygenatedC19 androgens in the pathogenesis of CAH.Aim: To explore the use of 11-oxygenat...

hrp0095p1-48 | Diabetes and Insulin | ESPE2022

Maternal Hepatic HKDC1 Expression Impacts Offspring Glucose Metabolism

Jo Inha , Khan Md. , Layden Brian

Gestational Diabetes (GDM) increases risk of developing type 2 diabetes in the mother and child later in life however, despite the increasing prevalence of GDM, its molecular mechanism remains unknown. A recent Genome-Wide Association Study (GWAS) identified a unique genetic association of the novel 5th hexokinase, hexokinase domain component-1 (HKDC1) to gestational glucose tolerance at 28 weeks of gestation linking it to GDM. We have previously shown that liver-specific over...

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...

hrp0089p1-p163 | Growth & Syndromes P1 | ESPE2018

The Association between Growth Hormone Dose and Short-Term Height Outcomes in a Large Cohort of Paediatric Patients with Turner Syndrome: Real-World Data from the NordiNet® International Outcome Study (IOS) and ANSWER Program

Blair Jo , Rohrer Tilman R. , Tonnes Pedersen Birgitte , Roehrich Sebastian , Backeljauw Philippe

Objectives: The recently updated clinical practice guidelines for Turner syndrome (TS) recommend a growth hormone (GH) dose of 45–50 μg/kg/day, increasing to 68 μg/kg/day in case adult height potential is substantially compromised (1). Real-world data on the modifiable factors impacting near-adult height in GH-treated TS patients are limited, but short-term responsiveness to GH has been suggested as one factor (2). We, therefore, analysed the impact of GH dose o...

hrp0089p2-p252 | Growth & Syndromes P2 | ESPE2018

Final Results of NordiNet® International Outcome Study: Key Outcomes in Paediatric Patients

Polak Michel , Blair Jo , Rohrer Tilman R. , Pietropoli Alberto , Tonnes Pedersen Birgitte , Savendahl Lars

Background: NordiNet® International Outcome Study ([IOS]; NCT00960128), a non-interventional study (2006–2016), assessed the effectiveness and safety of real-world treatment with Norditropin®. Outcomes were assessed in children with growth hormone deficiency (GHD), born small for gestational age (SGA), Turner syndrome (TS), chronic renal disease (CRD), idiopathic short stature (ISS), Noonan syndrome (NS) and Prader-Willi syndrome (PWS)....

hrp0089p1-p198 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A National UK Guideline for Managing Pituitary Adenomas in Children and Young People Under 19 Years Developed According to the AGREE II Framework

Blair Jo , Korbonits Marta , Ronaldson Amy , Dang Mary N , Spoudeas Helen

Pituitary adenomas are usually benign tumours arising from the hormone-secreting cells of the anterior pituitary gland. These adenomas can result in excess hormone secretion and the development of characteristic syndromes, such as Cushing’s disease, acromegaly and hyperprolactinaemia, and/or mass effects on surrounding vital structures causing for example visual disturbances and pituitary hormone deficiencies. In children and young people under 19 years (CYP), the managem...

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 & 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 ...