hrp0094s12.1 | Epigenetics and Genetics in Endocrine Disorders | ESPE2021

Epigenetics, imprinting and growth

Temple I Karen ,

Human imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of gene dosage at imprinted loci across the genome. Causes of disease include point mutations, structural variants, uniparental disomy and ‘epimutations’ with a parent of origin specific effect. Further complexity underlies the causes of the epigenomic errors that may be the result of genetic and environmental factors at different times during the de...

hrp0082p1-d3-47 | Bone (1) | ESPE2014

Relation Between CNP Signaling Pathway and the Effect of Combined Treatment with GnRHa and rhGH on the Linear Growth in Mid/Late Pubertal Girls at Great Bone Ages with CPP or EFP

M A Hua-mei , S U Zhe , L I Yin-ya

Objectives: To evaluate the effect of combined treatment with GnRH analogue (GnRHa) and recombinant human GH (rhGH) on the linear growth in mid/late pubertal girls at great bone ages with central precocious puberty (CPP) or early and fast puberty (EFP). To investigate the relation between C-type natriuretic peptide (CNP) signaling pathway and GH’s effect on linear growth in these girls. Methods 22 girls were diagnosed as CPP or EFP, whose bone ages were older than 11.5 ye...

hrp0082p2-d1-457 | Growth | ESPE2014

Relation Between CNP and the Effect of Combined Treatment With GnRHa and GH on the Linear Growth in Mid/Late Pubertal Girls with Central Precocious Puberty or Early and Fast Puberty at Great Bone Ages

Hua-mei M A , Zhe S U , Yin-ya L I

Background: It’s well known that GnRH analogue (GnRHa) could not improve the final height of mid/late pubertal girls with central precocious puberty (CPP) or early and fast puberty (EFP) for their low growth potential.Objectives: To evaluate the effect of combined treatment with GnRHa and GH on the linear growth in mid/late pubertal girls with CPP/EFP at great bone ages. To investigate the relation between C-type natriuretic peptide (CNP) and GH&#14...

hrp0084p3-650 | Bone | ESPE2015

Prevalence of Vitamin D Deficiency in Sickle Cell Anaemic Children in Jos, Nigeria

Abok Ibrahim I , Mukuwhana Rensom , Konrad Katja , Okolo Selina

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...

hrp0094p2-372 | Pituitary, neuroendocrinology and puberty | ESPE2021

The impact of the Covid-19 pandemic on the UK National Hypothalamic-pituitary Axis Tumour (HPAT) multidisciplinary meeting

Bosch i Ara Laura , Spoudeas Helen , Wei Gan Hoong ,

Background: The HPAT multi-disciplinary meeting (MDT) was set up in 2011 with the aim to improve collaboration with other hospitals treating children with rare paediatric suprasellar brain tumours. It is a monthly remote meeting conducted virtually.Objective: To evaluate the impact of COVID19 pandemic by comparing the number of meetings, cases (news/previously discussed), diagnosis, attendees, specialties, centres and ou...

hrp0095p1-234 | Diabetes and Insulin | ESPE2022

Paediatric Post-Prandial Hyperinsulinaemic Hypoglycaemia

Brungs Rosemary , Güemes Maria , Bosch I Ara Laura , Kapadia Sharan , De Coppi Paolo , Shah Pratik

Objective: Postprandial hyperinsulinaemic hypoglycaemia (PPHH) or “late dumping syndrome” is a well-recognised complication following gastrointestinal surgery and has been less commonly identified idiopathically in paediatric patients. This study describes and compares the characteristics, diagnosis, management and outcomes of paediatric idiopathic and surgical PPHH.Design: Retrospective chart review of child...

hrp0095p2-149 | GH and IGFs | ESPE2022

Advancing personalised medicine for growth hormone delivery: mixed-methods participatory study of a next generation, smart auto-injector device

I Labarta José , Rivera-Romero Octavio , Fernández-Luque Luis , Keiser Matthew , Koledova Ekaterina

Background: Treatment of growth hormone deficiency (GHD) requires daily injections over multiple years. Novel technologies facilitate this by automating the injection process – thereby adding comfort and reducing anxiety. An always-connected device, enabled by mobile technologies, also facilitates the collection of injection data such that adherence information is available to healthcare professionals (HCPs) in real-time. In developing new solutions, it ...

hrp0092rfc8.6 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Growth, Pubertal Course and Long-Term Outcome of 46,XY Boys Born with Atypical Genitalia and Low Birthweight

Tack Lloyd , Straaten Saskia van der , Cools Martine , consortium On behalf of the I-DSD

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

hrp0092p1-170 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Efficacy and Safety of Denosumab Treatment in a Boy with Cherubism

Kawamura Haruka , Watanabe Satoshi , I Takashi , Asahina Izumi , Moriuchi Hiroyuki , Dateki Sumito

Introduction: Denosumab is an inhibitor of receptor activator of nuclear factor kappa-B ligand that strongly suppresses differentiation and function of osteoclasts. Cherubism is a rare autosomal dominant disorder characterized by symmetrical swelling of the mandible and the maxilla. In patients with cherubism, the bone is replaced by a fibrous granuloma containing multinucleated giant cells, which are differentiated into activated osteoclasts<p class="abst...

hrp0089rfc2.3 | Bone, Growth Plate &amp; Mineral Metabolism 1 | ESPE2018

Measured Free 25-Hydroxyvitamin D in Healthy Children and Relationship to Total 25-Hydroxyvitamin D, Calculated Free 25-Hydroxyvitamin D and Vitamin D Binding Protein

Bosch i Ara Laura , Lopez-Molina Maria , Santillan Cecilia , Murillo Marta , Valls Aina , Bel Joan

Introduction: Vitamin D deficiency in children is still a global health problem. Measuring free 25-hydroxyvitamin D concentrations could provide a better estimate of the vitamin D status than total 25-hydroxyvitamin D (25(OH)D) levels.Objective: To assess the relationship between measured free vitamin D (m-f25(OH)D) and calculated free 25(OH)D (c-f25(OH)D), total 25(OH)D, intact parathyroid hormone (iPTH) and other markers of phosphocalcic metabolism. Es...