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...

hrp0098ha1 | Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β‐hydroxylase deficiency and vitamin D‐resistant bone rickets | ESPE2024

Biallelic missense FDX1 mutation causes congenital adrenal hyperplasia with 11β-hydroxylase deficiency and vitamin D-resistant bone rickets

Janot Clément , Lucas Cécily , Mallet Delphine , Demdoum Mohammed , Martinez Antoine , Plotton Ingrid , Reynaud Rachel , Rigaud Chantal , Silve Caroline , Val Pierre , Roucher-Boulez Florence

Backgrounds and Aims: Primary adrenal insufficiency (PAI) is due to impaired production of steroid hormones by the adrenal cortex. Among PAI of genetic origin, most cases have congenital adrenal hyperplasia (CAH), due to 21-hydroxylase or less frequently 11β-hydroxylase deficiency (11OHD), but 5% have no clear genetic support. Adrenal steroidogenesis pathway comprises three P450 cytochrome-based mitochondrial oxidative steps (CYP11A1, CYP11B1 and CYP11B2)...

hrp0098fc5.6 | Growth and Syndromes | ESPE2024

First line treatment evaluation in patients with severe primary insulin-like growth factor 1 deficiency (SPIGFD): Data from the Global Increlex® Registry

Bang Peter , Backeljauw Philippe , Woelfe Joachim , Bossowski Artur , Beń-Skowronek Iwona , Argente Jesús , De Schepper Jean , Perrot Valérie , Sert Caroline , Maghnie Mohamad

Background: Severe primary insulin-like growth factor-1 deficiency (SPIGFD) is a rare growth disorder characterised by extreme short stature, low serum IGF-1 and normal/elevated serum growth hormone (GH). Some patients receive GH treatment before recombinant human IGF-1 (rhIGF-1; Increlex® [mecasermin]). We investigated rhIGF-1 effectiveness and tolerability in patients previously treated with GH versus GH naïve patients at rhIGF-1 initiati...

hrp0098p1-170 | Growth and Syndromes 2 | ESPE2024

Growth hormone therapy is not efficient in improving the adult height of children with Hypochondroplasia

Rosa Pellicciari Caroline , Silva Alves da Rocha Renata , Pieri Ribeiro Maine , Liberatoscioli Menezes de Andrade Nathalia , A. L. Jorge Alexander , C. Malaquias Alexsandra

Introduction: Hypochondroplasia (HCH) is a form of mild dwarfism caused by heterozygous gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3). FGFR3 is a negative regulator of endochondral bone growth, and individuals with HCH typically exhibit characteristics such as disproportionate short stature with shortening limb length, lumbar lordosis, and macrocephaly. Regarding recombinant human growth hormone (rhGH) therapy in children with H...

hrp0098p3-152 | Growth and Syndromes | ESPE2024

Unusual case of Noonan or Turner Syndrome – Why not think about Escobar Syndrome?

Navarro da Cunha Beatriz , Hoelz Tellini Toledo Arthur , de Polli Celin Laurana , Rosa Pelliciari Caroline , Santili Cláudio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics includ...