hrp0082fc2.5 | Bone & Mineral | ESPE2014

Pharmacokinetics and Pharmacodynamics of a Human Monoclonal Anti-Fibroblast Growth Factor 23 Antibody (KRN23) Following 4 Month Intra-Dose Escalation in Adults with X-Linked Hypophosphatemia

Zhang Xiaoping , Imel Erik , Ruppe Mary , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Peacock Munro , Carpenter Thomas

Background: In X-linked hypophosphatemia (XLH), abnormally elevated serum fibroblast growth factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption (TmP/GFR), low serum phosphorus (Pi), inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) and development of rachitic deformities.Methods: Up to four s.c. KRN23 doses were given every 28 days to 28 adults with XLH according to a dose-escalation algorithm (0.05&#1...

hrp0082fc2.6 | Bone & Mineral | ESPE2014

Efficacy and Safety Following 4 Monthly s.c. Doses of a Human Anti-Fibroblast Growth Factor 23 Antibody (KRN23) in Adults with X-linked Hypophosphatemia

Peacock Munro , Imel Erik , Zhang Xiaoping , Ruppe Mary , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Carpenter Thomas

Background: In X-linked Hypophosphatemia (XLH), abnormally elevated serum Fibroblast Growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption (TmP/GFR), low serum phosphorus (Pi), inappropriately normal 1,25-dihydroxyvitamin D (1,25(OH)2D) and development of rachitic deformities.Methods: Up to four SC KRN23 doses were given every 28 days to 28 adults with XLH (26 completed) according to a dose-escalation algorithm (0.05&...

hrp0082fc9.1 | Beta cells | ESPE2014

Inappropriately High Rates of Cell Proliferation in Diffuse Congenital Hyperinsulinism are Linked to Nuclear Expression of CDK6

Salisbury Rachel , Han Bing , Mohamed Zainaba , De Krijger Ronald , Gardner Laurienne , Gardner Julia , Cosgrove Karen , Padidela Raja , Newbould Melanie , Banerjee Indraneel , Hanley Neil , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) mainly arises from loss-of-function mutations in the KATP channel genes. As a consequence, insulin release is uncontrolled and causes persistent or recurrent episodes of hypoglycaemia in neonates. In patients with diffuse-CHI (CHI-D) increased rates of cell proliferation has been reported, but the causes of proliferation are unknown.Objective/Hypotheses: To assess the extent of cell proliferation an...

hrp0082p1-d2-35 | Bone | ESPE2014

Assessment of Quality of Life Data After 4 Monthly S.C. Doses of a Human Monoclonal Anti-Fibroblast Growth Factor 23 Antibody (KRN23) in Adults with X-linked Hypophosphatemia

Ruppe Mary , Zhang Xiaoping , Imel Erik , Weber Thomas , Klausner Mark , Ito Takahiro , Vergeire Maria , Humphrey Jeffrey , Glorieux Francis , Portale Anthony , Insogna Karl , Peacock Munro , Carpenter Thomas

Objectives: In X-linked hypophosphatemia (XLH), abnormally elevated serum Fibroblast growth Factor 23 (FGF23) results in low renal maximum threshold for phosphate reabsorption, low serum phosphorus, inappropriately normal 1,25-dihydroxyvitamin D, and development of rachitic deformities. The effect of KRN23 on health-related quality of life (HRQL) was assessed.Methods: Open-label KRN23 was given s.c. every 28 days up to four doses to 28 adults with XLH (2...

hrp0082p2-d3-309 | Bone (2) | ESPE2014

Risedronate Use in Duchenne Muscular Dystrophy: a Pilot Randomised Control Trial

Mc Sweeney Niamh , Mc Kenna Malachi , van der Kamp Susan , Kilbane Mark , Mc Donnell Ciara , Murphy Nuala , Webb David , Lynch Bryan

Background: Boys affected with Duchenne Muscular Dystrophy (DMD) have lower bone mineral density compared with unaffected boys.Objective and hypotheses: We sought to determine the effects on bone mineral density (BMD) of 1 year treatment with Risedronate and calcium/vitamin D supplementation vs calcium/vitamin D supplementation alone.Method: BMD was measured at spine and whole body. We obtained early morning fasting blood samples f...

hrp0084fc6.2 | Gonads & DSD | ESPE2015

A Role for DMRT1 in Human Primary Sex-Determination

Rojo Sandra , Murphy Mark , Lee John , Gearhart Micah , Kurahashi Kayo , Banerjee Surajit , Loeuille Guy-Andre , Zarkower David , Aihara Hideki , Bardwell Vivian , McElreavey Ken , Bashamboo Anu

Background: DMRT transcription factors are highly conserved regulators of metazoan sexual development. The role of DMRT1 in human primary sex-determination is unclear. Chromosome 9p deletions that remove one copy of DMRT1 are associated with 46,XY feminization and gonadal dysgenesis. While they suggest that DMRT1 is haploinsufficient for testicular development, these deletions usually remove other genes, including DMRT2 and DMRT3. Also, most 9p deletions cause incomplete gonad...

hrp0098p3-353 | Late Breaking | ESPE2024

A rare case of thyroid cancer in an adolescent girl

Shan Queenie See Wing , Fei Geoffrey Yu Chek , Pun Wong Kai , Yeung Fanny , Lok Wendy Chan Wing , Mark Vivian , Kit Grace Poon Wing

Follicular thyroid carcinoma (FTC) is a rare subtypes of thyroid cancer in children that consists of less than 10% of thyroid cancer. It has a wide range of clinical behaviors from indolent to widely metastasis. There are currently no evidence-based consensus or management guidelines for FTC in children. We describe the treatment challenges in a 9-year old girl with encapsulated angiovasive follicular thyroid carcinoma post right hemithyroidectomy with an enlarged left submand...

hrp0089p3-p373 | Thyroid P3 | ESPE2018

Hypovitaminosis D and Chronic Autoimmune Thyroiditis Mammary Echostructural Involvements in Puberty

Ibadula Seila , Circo Eduard

Introduction: Benign breast pathology has a frequent onset during puberty-adolescence.Objectives: Differential evaluation of breast echostructure in puberty stage III/V, on Tanner scale, depending on the presence of thyroid autoimmunity and hypovitaminosis D.Method: Assessment of BIRADS score from 2 to 4 in three groups of girls associating premenstrual mastodynia: Group 1 - including patients with chronic autoimmune thyroiditis an...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

hrp0095p1-9 | Adrenals and HPA Axis | ESPE2022

Identification of a novel CYP11B2 variant in a family with varying degrees of aldosterone synthase deficiency

Garrelfs Mark , Rinne Tuula , Hillebrand Jacquelien , Lauffer Peter , Bijlsma Merijn , Claahsen-van der Grinten Hedi , de Leeuw Nicole , Finken Martijn , Rotteveel Joost , Zwaveling-Soonawala Nitash , Nieuwdorp Max , van Trotsenburg Paul , Mooij Christiaan

Background: Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2. To date, more than forty different pathogenic variants in the CYP11B2 gene causing isolated aldosterone synthase deficiency have been identified. We report on a novel pathogenic CYP11B2 variant.Case report: The second child (male) of consanguineous, healthy parents, presented shortly after...