hrp0097p2-176 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A patient-centred and multi-stakeholder co-designed, mixed methods, observational, prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphatemia (XLH)

Saraff Vrinda , Arango-Sancho Pedro , Bacchetta Justine , M. Boot Annemieke , P. Burren Christine , Chinoy Amish , Dharmaraj Poonam , David González-Rodríguez Juan , Gueorguieva Iva , Hayes Wesley , Linglart Agnès , Amelia Gómez Llorente Maria , Ríos Héctor , Schnabel Dirk , Harvengt Pol , M.A. Bailey Karen , Glen Fiona , J. Rylands Angela , Williams Angela , Haf Davies Elin

Background: XLH is a rare, genetic, life-long disease caused by PHEX pathogenic variants. It is associated with progressive accumulation of musculoskeletal features and symptoms that evolve across the patient’s lifetime if untreated. Although the disease is well characterised in children and adults, there are limited data describing the health outcomes and experiences of adolescents, particularly at end of skeletal growth (EOSG), a crucial phase during t...

hrp0098fc4.4 | Adrenals and HPA Axis 1 | ESPE2024

Crinecerfont, a Corticotropin-Releasing Factor Type 1 Receptor (CRF1) Antagonist, Reduced Excess Adrenal Androgens and Glucocorticoid Doses in Children and Adolescents with Classic Congenital Adrenal Hyperplasia: Results from CAHtalystTM Pediatric

Sarafoglou Kyriakie , S. Kim Mimi , Lodish Maya , I. Felner Eric , Martinerie Laetitia , J. Nokoff Natalie , Clemente Maria , Y. Fechner Patricia , G. Vogiatzi Maria , W. Speiser Phyllis , B.G. Rosales Gelliza , Roberts Eiry , S. Jeha George , Farber Robert , L. Chan Jean , Ottosson Lars , Baroncelli Marta , Dou Zelong , Nilsson Ola

Introduction: Children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) require glucocorticoid (GC) therapy to replace cortisol insufficiency and reduce excess adrenal androgens. Supraphysiological GC doses are typically required, predisposing patients to GC-related comorbidities. In Phase 2 studies, participants with CAH who received crinecerfont, a novel oral CRF1 antagonist, experienced reduction of the adrenal a...

hrp0098p1-8 | Adrenals and HPA Axis 1 | ESPE2024

Leptin and adiponectin are associated with the glucocorticoid dose and androgen concentrations in children and young persons with congenital adrenal hyperplasia: data from the CAH-UK cohort.

A Bacila Irina , R Lawrence Neil , Alvi Sabah , D Cheetham Timothy , Crowne Elizabeth , Das Urmi , T Dattani Mehul , H Davies Justin , Gevers Evelien , Keevil Brian , E Krone Ruth , Lawrie Allan , Patel Leena , Randell Tabitha , J Ryan Fiona , Thankamony Ajay , Faisal Ahmed S , P Krone Nils

Introduction: Patients with Congenital adrenal hyperplasia (CAH) have increased prevalence of obesity and metabolic problems. The underlining mechanisms are not clearly known. Adipokines are likely involved in this association, however, their role in it is not completely understood.Objective: We studied adiponectin and leptin in children and young persons with CAH, in relation to their body mass, treatment, hormonal and ...

hrp0098p1-116 | Bone, Growth Plate and Mineral Metabolism 2 | ESPE2024

Health related quality of life (HRQoL) of adolescents with XLH treated with burosumab at the end of skeletal growth (EoSG.

Saraff Vrinda , Arango Sancho Pedro , Bacchetta Justine , Linglart Agnès , Burren Christine , Chinoy Amish , Dharmaraj Poonam , Amelia Gómez Llorente Maria , David González Rodríguez Juan , Gueorguieva Iva , Haf Davies Elin , Hayes Wesley , Komarzynski Sandra , Ríos Duro Héctor , J Rylands Angela , Sandilands Kerry , Hardie Emily , Ishii Haruka , Schnabel Dirk , Selveindran San , M Boot Annemieke

Introduction: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disorder causing phosphate wasting; hence symptoms in children include impaired growth, lower limb deformities, chronic pain and impaired physical function. Health-related quality of life (HRQoL) of patients with XLH on conventional therapy is lower than that of the general population. Burosumab has been shown to improve HRQoL in younger children and adults, but its effects in adoles...

hrp0098p2-357 | Late Breaking | ESPE2024

Real-world IGF-1 Variations & Its Management in Children on Recombinant Human Growth Hormone (rhGH) Therapy (RIGHT Study)

Ching Chen Suet , Alimussina Malika , Koley Sanhita , Shepherd Sheila , Eid Al-Agha Abdulmoein , Amin Nadia , Atapattu Navoda , Chen JiaJia , Deyanova Yana , Fu Antony , Højby Michael , Augusto de Lima Jorge Alexander , Iotova Violeta , Januś Dominika , Markosyan Renata , S. Miller Bradley , Savendahl Lars , Nimali Seneviratne Sumudu , Guftar Shaikh M , Shenoy Savitha , J W Tack Lloyd , Wasniewska Malgorzata , Faisal Ahmed S

Aim: Serum IGF-1 is widely advocated as a tool for monitoring adherence, safety and effectiveness of recombinant human growth hormone (rhGH). However, there is a need to understand the real-world variations in IGF-1 levels in children on rhGH and the management of abnormal IGF-1 levels in routine clinical practice.Method: Centres participating in the Global Registry for Novel Therapies in Rare Bone and Endocrine Conditio...

hrp0089p1-p249 | Thyroid P1 | ESPE2018

Neonatal Screening for Congenital Hypothyroidism: Age-dependent Reference Intervals for Dried Blood Spot TSH in the Neonatal Period

Corbetta Carlo , Angelis Simona De , Rotondi Daniela , Alberti Luisella , Cassini Pamela , Mariani Tiziana , Caiulo Silvana , Vigone Maria Cristina , Weber Giovanna , Olivieri Antonella

Background: National and international guidelines recommend thyrotropin (TSH) determination as the most sensitive test for detecting primary congenital hypothyroidism (CH) in newborn screening programs. A strategy of a second screening at 2 weeks of age, or 2 weeks after the first screening was carried out, is also recommended in preterm, LBW and VLBW neonates, twins, neonates admitted in NICU, and babies with specimen collection within the first 24 hours of life [1–3]. H...

hrp0095fc10.2 | GH and IGFs | ESPE2022

The first-year growth response to once-weekly growth hormone (GH) treatment can be predicted from the pre-treatment blood transcriptome in children with GH deficiency (GHD)

Garner Terence , Clayton Peter , Murray Philip , Bagci Ekaterine , Højby Michael , Stevens Adam

Growth response to daily GH treatment can be predicted using pre-treatment gene expression profiles.1 Once-weekly GH treatment potentially reduces the burden of daily injections2 and thus may be a major advancement in care for patients with GHD, vs standard, daily GH treatment. Here we investigate the prediction of first-year growth response based on pre-treatment blood transcriptome in children with GHD undergoing treatment with daily or once-weekly GH. ...

hrp0095p1-500 | GH and IGFs | ESPE2022

A patient-centric approach to connected health solutions in paediatric growth hormone therapy

Halabi Ammar , Martin Blaine , Koledova Ekaterina , Giunti Guido , Dimitri Paul

Background: There is a clear need for improved patient-centric approaches in the treatment of chronic conditions, including paediatric growth hormone deficiency (GHD). Greater understanding of the patient’s treatment journey has the potential to inform clinical decisions and to improve clinical- and patient-reported outcomes. Connected Health (CH) combines state-of-the-art technologies, tools, methodologies and analytics to create new patient-centric hea...

hrp0095p1-352 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Random Luteinizing Hormone Concentrations for Monitoring Central Precocious Treatment Efficacy

Zeitler Philip , M. Boldt-Houle Deborah , N. Atkinson Stuart

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

hrp0095p2-313 | Late Breaking | ESPE2022

A rare cause of precocious puberty: Hepatoblastoma

Jacob Anju , Elbejjani Mireille , Qazi Abid , Thalange Nandu

Background: Neoplastic causes of precocious puberty include brain, gonadal, adrenal and germ cell tumors; hepatoblastoma (HB) is only rarely noted [1,2]. HB, is a rare primary hepatic tumor of childhood [3]. It is accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, beta-human chorionic gonadotropin (β-hCG) levels are elevated, resulting in peripheral precocious puberty (PPP).Clinical Case: We pre...