hrp0086p1-p812 | Syndromes: Mechanisms and Management P1 | ESPE2016

Skeletal Disproportion in Girls with Turner Syndrome

McVey L , Fletcher A , Murtaza M , Donaldson MD , Wong SC , Mason A

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

hrp0089p1-p208 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Testicular Development and Puberty in Boys with Duchenne Muscular Dystrophy: Results From the ScOT-DMD Study

Denker M , Joseph S , DiMarco M , Dunne J , Horrocks I , Ahmed SF , Wong SC

Introduction: Delayed or absent puberty is thought to be common in boys with Duchenne Muscular Dystrophy (DMD).Objective: To evaluate testicular development, function and puberty in DMD in a 12 months prospective longitudinal study.Methods: Thirty-four boys had assessment of puberty and testes volume by a single endocrinologist. Testes volumes were converted to Z-scores adjusted for bone age. Boys were divided into group A [Baselin...

hrp0086p1-p143 | Bone & Mineral Metabolism P1 | ESPE2016

Impact of Anti-Tumour Necrosis Factor Therapy on the Insulin Like Growth Factor Axis and Bone Development in Childhood Crohn’s Disease

Altowati M. , Malik S. , Shepherd S. , McMillan M. , McGrogan P. , Ahmed S.F. , Wong S.C.

Background: There is currently no published study evaluating the role of the IGF axis on bone development following anti-tumour necrosis factor (TNF) therapy in Crohn’s disease (CD).Method: Prospective, 12-month study in 19CD(12M) who were clinical responders to antiTNF therapy, median age 14.9 years (range 11.2–17.2). IGF1, insulin growth factor binding protein 3(IGFBP3), acid labile subunit (ALS), bone-specific alkaline phosphatase (BALP) and...

hrp0086p1-p803 | Syndromes: Mechanisms and Management P1 | ESPE2016

Body Surface Area Estimation in Girls with Turner Syndrome: Implications for Interpretation of Aortic Sized Index

Fletcher A , McVey L , Guaragna-Filho G , Hunter L , Lemos-Marinia SHV , Santoro RI , Mason A , Wong SC

Background: Aortic sized index (ASI) defined as aortic root size/body surface area (BSA) is used to provide information on dissection risk in Turner Syndrome (TS). There are multiple equations for estimation of BSA. The impact of using a different BSA equation for calculation of ASI is unknown.Method: We calculated BSA of 114 TS girls from 2273 outpatient visits using Dubois, Mostellar, Haycock, Gehan, Boyd and Furqan formulae. BSA estimation with Dubois...

hrp0094p2-9 | Adrenals and HPA Axis | ESPE2021

Variability of advice and education for steroid sick day dosing in Duchenne Muscular Dystrophy and the impact of the COVID-19 pandemic: Results of a UK wide patient survey

Thakrar S , Cheung MS , Johnson A , Katugampola H , Manzur A , Muntoni F , Mushtaq T , Turner C , Wood C , Guglieri M , Wong SC ,

Introduction: The use of long-term oral corticosteroid in DMD is associated with a range of side effects including secondary adrenal insufficiency. The updated international care consensus (2018) recognizes this important issue and recommends emergency plans to be in place.Aim: This online UK-wide patient survey aims to determine the advice and education given for sick day dosing plans and the impact of the COVID-19 pand...

hrp0086p1-p102 | Bone & Mineral Metabolism P1 | ESPE2016

Radiologically Confirmed Fractures in a Scottish Nationwide Cohort of Boys with Duchenne Muscular Dystrophy

Joseph Shuko , Di Marco Marina , Abu-Arafeh Ishaq , Baxter Alex , Cordeiro Nuno , Horrocks Iain , MacLellan Linda , McWilliam Kenneth , Naismith Karen , O'Hara Ann , Faisal Ahmed S , Wong SC

Background: Published studies of radiologically confirmed fractures in sufficiently large cohorts of boys with Duchenne Muscular Dystrophy (DMD) are limited.Objective: To determine the incidence of fractures in a contemporary cohort of 91 boys with DMD managed in all Scottish centres.Method: Radiologically confirmed fractures were classified into vertebral fracture (VF) and non-VF in a retrospective audit of all boys currently mana...

hrp0082p1-d2-39 | Bone | ESPE2014

Continuous s.c. Recombinant PTH1–34 Pump Therapy in Congenital Hypoparathyroidism Associated with Malabsorption

Saraff Vrinda , Hogler Wolfgang

Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH1–34) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.Objective and hypotheses: We r...

hrp0084p3-945 | GH & IGF | ESPE2015

As Great Intra as Interindividual Variability in Uptake of s.c. GH Injections in Longitudinally Followed GH Treated Children

Lundberg Elena , Kristrom Berit , Andersson Bjorn , Rosberg Sten , Albertsson-Wikland Kerstin

Background: The variation in uptake of daily sc GH-injections is hardly known.Objective and hypotheses: There is a considerable variability in uptake of s.c. GH-injections both within and between children.Method: 65 children used (Genotropin® pen 4/16, needle 12 mm), dose 0.08–0.14 mU/kg per day within trials: TRN 87–010; 88–080; 88–177; followed yearly two–eight times 1992–1999 (n=214). ...

hrp0086p1-p199 | Diabetes P1 | ESPE2016

Anthropometry and Glucose Homeostasis in a Patient with Donohue Syndrome (Homozygous Insulin Receptor Mutation): Effect of Continuous s.c. rIGF-I Therapy

Plamper Michaela , Schreiner Felix , Gohlke Bettina , Wolfle Joachim

Background: Donohue syndrome (DS) is caused by autosomal-recessive loss of function mutations of the insulin receptor gene. DS is associated with diabetes mellitus unresponsive to conventional insulin therapy due to severe insulin resistance. Patients exhibit IUGR and postnatal failure to thrive. They develop a characteristic facies, hypertrichosis and acanthosis nigricans. Most patients die within the first two years of life because of respiratory infections. To date, no caus...

hrp0082p2-d1-420 | Growth Hormone | ESPE2014

S.c. Injections of a Reversible Albumin-Binding GH Derivative (NNC0195-0092) in Adult Subjects with GH Deficiency is Well Tolerated

Rasmussen Michael Hojby , Janukonyte Jurgita , Klose Marianne , Marina Djordje , Tanvig Mette , Nielsen Lene , Hoybye Charlotte , Andersen Marianne , Feldt-Rasmussen Ulla , Christiansen Jens

Background: Recombinant human GH (rhGH) is normally administered as a daily s.c. injection. NNC0195-0092 is a reversible albumin-binding GH derivative developed with the aim of reducing clearance and thereby extending the exposure. It has previously been demonstrated that NNC0195-0092 is well tolerated in healthy subjects with the potential for once weekly administration.Objective and hypotheses: In this trial NNC0195-0092 was administrated subcutaneousl...