hrp0084p1-81 | Growth Hormone | ESPE2015

The Growth Response to Growth Hormone Treatment is Greater in Patients with SHOX Enhancer Deletions Compared to SHOX Defects

Donze Stephany , Meijer Caroline , Kant Sarina , Zandwijken Gladys , van der Hout Annemieke , van Spaendonk Resie , van den Ouweland Ans , Wit Jan Maarten , Losekoot Monique , Oostdijk Wilma

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

hrp0084p2-307 | DSD | ESPE2015

Diagnostic Approach to a Newborn with Suspected DSD: Results From an International Survey of Specialist Care for DSD

Kyriakou Andreas , Dessens Arianne B , Bryce Jillian , Haraldsen Ira , Iotova Violeta , Juul Anders , Krawczynski Maciej , Nordenskjold Agneta , Rozas Marta , Sanders Caroline , Hiort Olaf , Ahmed S Faisal

Background: The approach to investigating a newborn with a suspected DSD is likely to vary between centres and may be influenced by local availability.Method: To explore the current diagnostic practice and needs, an international survey of 124 paediatric endocrinologists, identified through DSDnet and the I-DSD Registry, was performed in 2014.Results: A total of 77/124 (62%) clinicians, in 74 centres, from 38/42 (91%) countries res...

hrp0084p2-469 | Growth | ESPE2015

Major Improvement in Parental Perception of their Children’s Height-Specific Quality of Life after 1 Year of GH Treatment: Our Experience with the QoLiSSY Questionnaire

Gonzalez-Briceno Laura Gabriela , Viaud Magali , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Pauwels Christian , Beltrand Jacques , Busiah Kanetee , Pinto Graziella , Polak Michel

Background: Short stature may be a source of social and affective stress in children and their parents, and thus impact negatively on their quality of life (QoL). Treatment by GH may improve QoL through normalisation of height.Objective: To evaluate height-specific QoL in short stature children after 1 year of GH treatment.Methods: Prospective study. Inclusion criteria were: having started GH treatment at Hôpital Necker-Enfant...

hrp0084p2-484 | Hypo | ESPE2015

Challenged Diagnosis on Hypoglycaemia: Hirata Disease X Factitious Hypoglycaemia

dos Santos Tiago Jeronimo , Passone Caroline , Ito Simone , Savoldelli Roberta , Kuperman Hilton , Filho Hamilton Cabral de Menezes , Steinmetz Leandra , Dichtchekenian Vae , Manna Thais Della , Damiani Durval

Introduction: The Insulin Autoimmune Syndrome (IAS or Hirata Disease) is rare among children. Non-ketotic hyperinsulinaemic hypoglycemia and the presence of insulin auto-antibody (IAA) are the conditions to diagnose the syndrome. The occurrence of hypoglycemia is due to the binding of the antibody to the insulin molecule at the immediate postprandial, followed by this binomial dissociation, which releases free insulin on serum and triggers symptomatic hypoglycaemia.<p clas...

hrp0094fc6.1 | Bone and Mineral Metabolism | ESPE2021

Evaluation of the potential benefits of biphosphonate treatment on symptomatic vertebral fractures in children treated for acute lymphoblastic leukemia

Diaz Escagedo Patricia , Fiscaletti Melissa , Di Ioia Rose , Perrault Melissa , Olivier Patricia , Dubois Josee , Miron Marie-Claude , Laverdiere Caroline , Hoa Tran Thai , Alos Nathalie ,

Background and Aim: Vertebral fractures (VF) in children with acute lymphoblastic leukemia (ALL) are often symptomatic and impairing life quality. Prevalence of children with VF at ALL diagnosis has been reported as 16% with peak incidence occurring during the first year after diagnosis and a 6-year cumulative incidence of 32.5%. Moreover, only 15.8% of these patients will have vertebral reshaping 24 months after ALL diagnosis. Additionally, 23% of ALL survivo...

hrp0094p1-13 | Bone A | ESPE2021

Characterisation and phenotype-genotype associations of a large cohort of patients with pseudohypoparathyroidism type 1A and 1B

Prentice Philippa , Wilson Louise , Gevers Evelien , Buck Jackie , Raine Joseph , Rangasami Jayanti , McGloin Helen , Peters Catherine , Amin Rakesh , Gan Hoong-Wei , Brain Caroline , Dattani Mehul , Allgrove Jeremy ,

We characterised the phenotype of PHP patients at two UK tertiary care centres and investigated phenotype-genotype correlations.Method: Retrospective review of case notes for patients with PHP at two UK tertiary care centres.Results: 55 patients, from 41 kindreds, were identified; 32 with PHP1a, 23 with PHP1b. The PHP1a cohort (56% female, 69% White), currently aged 16.7+/-10.6 years, presented at ...

hrp0094p1-142 | Sex Endocrinology and Gonads B | ESPE2021

Investigation of primary adrenal insufficiency (PAI) in children with 46,XY differences in sex development (DSD)

Man Elim , Peters Catherine , Brain Caroline , Lichtarowicz-Krynska Ewa , Bahl Shailini , Buchanan Charles , Spoudeas Helen , Aitkenhead Helen , Hindmarsh Peter , Dattani Mehul , Achermann John ,

Background: When a baby presents with atypical genitalia, the most important diagnosis to consider is 21-hydroxylase deficiency (21OHD, CAH, 46,XX). However, primary adrenal insufficiency (PAI) can also occur in 46,XY children with differences in sex development (DSD), although this is less common. Known causes of 46,XY DSD-PAI include high blocks in steroidogenesis (STAR, CYP11A1); steroidogenic enzyme defects (HSD3B2, CYP17A1</...

hrp0094p2-253 | Growth hormone and IGFs | ESPE2021

GROWPATI Study: Growth and puberty description pattern in a well-characterized cohort of patients with growth retardation due to severe primary IGF1 deficiency

Stoupa Athanasia , Flechtner Isabelle , Viaud Magali , Pinto Graziella , Samara-Boustani Dinane , Thalassinos Caroline , Netchine Irene , Brioude Frederic , Amselem Serge , Legendre Marie , Polak Michel ,

Background: Severe primary insulin-growth factor-1 (IGF1) deficiency (SPIGF1D) is a rare cause of growth delay. The diagnostic criteria include age- and sex-dependent low basal IGF1 concentration (<2.5th percentile), height SDS < -3SDS, absence of growth hormone deficiency and of any secondary causes of growth failure.Objectives: 1) Report the growth pattern and pubertal status 2) Identify the molecula...

hrp0097p1-417 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Executive function, intelligence and bone mineral density: Do associations exist in childhood?

Moon Rebecca , D'Angelo Stefania , Crozier Sarah , Fernandes Michelle , Fall Caroline , Gale Catharine , Godfrey Keith , Davies Justin , Cooper Cyrus , Harvey Nicholas

Background: In later life, osteoporosis and poor cognitive function often co-exist. This has commonly been attributed to post-menopausal estrogen loss, but there is increasing recognition of cross-talk between the brain and bone. For example, in animal models, bone derived osteocalcin has positive associations with brain volume and cognitive function whilst brain-derived neurotransmitters appear to influence bone mass. Despite this, a common early life origin ...

hrp0097p1-298 | GH and IGFs | ESPE2023

Quality of life at adult height in adolescents and young adults treated by GH

González Briceño Laura , Magali Viaud , Beltrand Jacques , Flechtner Isabelle , Dassa Yamina , Samara-Boustani Dinane , Thalassinos Caroline , Busiah Kanetee , Pinto Graziella , Jaquet Delphine , Polak Michel

Background: short stature can lead to emotional and social stress in children and adolescents. We previously demonstrated in a cohort of 74 children that a one-year growth hormone treatment (GHT) is associated with a significant improvement of quality of life (QoL) especially on emotional and social scales, both in general (PedsQL 4.0) and height-specific (QoLiSSY) questionnaires. Whether this improvement is sustained until adult height remains to be documente...