hrp0094p2-66 | Bone, growth plate and mineral metabolism | ESPE2021

Vosoritide Clinical Study Data Demonstrates CXM is a Superior Biomarker of Endochondral Bone Growth

Larimore Kevin , Nguyen Thom , Qi Yulan , Jeha George , Zoog Stephen ,

Vosoritide is a C-type Natriuretic Peptide (CNP) analogue therapy for treatment of achondroplasia. Vosoritide acts on growth plate chondrocytes through the Natriuretic Peptide Receptor-B to stimulate increased endochondral bone growth, leading to increased growth velocity in treated subjects. In Phase II clinical studies, subject blood and urine samples were analyzed to monitor putative bone growth biomarkers including cross-linked C-terminal telopeptides of collagen II (CTxII...

hrp0089fc15.6 | Growth and Syndromes | ESPE2018

Vosoritide for Children with Achondroplasia:a 30 Month Update from an Ongoing Phase 2 Clinical Trial

Irving Melita , Hoover-Fong Julie , Bacino Carlos , Charrow Joel , Cormier-Daire Valerie , Dickson Patti , Harmatz Paul , Labed Alice Huntsman , Jayaram Kala , Jeha George , Day Jonathan , Larimore Kevin , Phillips John , Savarirayan Ravi

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Vosoritide is a biological analogue of C-type natriuretic peptide (CNP), a potent stimulator of endochondral bone growth. A Phase 2, open-label, sequential cohort, dose-escalation study was conducted to evaluate the safety, tolerability, and efficacy of vosoritide for 24 months in children with ACH aged 5&#150...

hrp0089p2-p045 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0092p3-181 | Multisystem Endocrine Disorders | ESPE2019

Phenotype and Clinical Course in Three Individuals with Multiple Endocrine Neoplasia Type 2A due to a RET Gene Mutation

Panou Evangelia , Chrousos George

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

hrp0094p2-34 | Adrenals and HPA Axis | ESPE2021

Maternal primary adrenal cortex insufficiency during pregnancy: Spotlight on the Fetus and the Neonate. A systematic review and meta-analysis.

Ilia Georgia , Paltoglou George , Chatzakis Christos , Christopoulos Panagiotis , Mastorakos George ,

Background/Aim: Maternal primary adrenal insufficiency, has been infrequently described during pregnancy, due to its rarity. Based on the existing literature, maternal hormone deficiency influences pregnancy and has an impact on mother and fetus/neonate, with only a few studies emphasizing on the respective outcomes. The aim of this systematic review and meta-analysis was to evaluate the impact of maternal corticosteroid deficiency during pregnancy on the fetu...

hrp0092p2-204 | Multisystem Endocrine Disorders | ESPE2019

Electromagnetic Fields Exposure in Adolescents: A Survey in 11-14 y Old Greek Students

Geronikolou Styliani , Chrousos George , Kanaka-Gantenbein Christina

Background: Electromagnetic field (EMF) exposure has been considered a potential environmental toxicant, which may influence endocrine and other functions, while population awareness remains limited. In an earlier study, we demonstrated that EMF alters the hypothalamic-pituitary-adrenal axis in children using a 3G mobile telephone.Aim: To screen and compare the motives, knowledge and status of electromagnetic field expos...

hrp0089p3-p279 | Multisystem Endocrine Disorders P3 | ESPE2018

Near Electromagnetic Fields – Induced Syndrome: Unsuspected and Newly Recognised

Geronikolou Styliani , Chrousos George , Kanaka-Gantenbein Christina

This present study investigates the impact of a common environmental hazard, the radiofrequency fields (RF), such as those regarding cell phones, cell phone base stations, wi-fi, portable phones (DECT), etc., as close to the body sources of exposure, on endocrine function. This is of importance, particularly for developing children, that have been and are exposed to this potential hazard. We performed analyses on endocrine assessments regarding stress, thyroid hand reproductiv...

hrp0092p1-169 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Hypercalcemia as a Post Stem Cell Transplantation Complication in Children with Osteopetrosis - A Single Centre Experience

Paul Praveen George , N.A Fouzia , Korula Sophy , Mathai Sarah , George Biju , Simon Anna

Introduction: Osteopetrosis (OP) is a rare genetic disorder that is characterized by abnormal osteoclast function resulting in dense bones and marrow failure. The only definitive cure for OP is stem cell transplantation (SCT). Hypercalcemia is a well described complication in children with OP undergoing SCT. This study describes the calcium profile and treatment modalities used to maintain normocalcemia in children with OP undergoing SCT.<p class="abstext"...

hrp0089rfc9.4 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2018

REplacement of MAle mini-Puberty in Neonates and Children with Micropenis and Cryptorchidism due to Hypogonadotropic Hypogonadism: Results of the ‘REMAP’ Study ISRCTN13007297

Papadimitriou Dimitrios T , Chrysis Dionysios , Nyktari Georgia , Zoupanos George , Liakou Eleni , Papadimitriou Anastasios , Mastorakos George

Background: Hormonal replacement in boys with congenital Hypogonadotrophic Hypogonadism (HH) as well as hormonal repair of bilateral cryptorchidism and micropenis remain a challenge in pediatric endocrinology.Methods: In the «REMAP» study ISRCTN13007297 eight neonates and infants, all with bilateral cryptorchidism in intra-abdominal position and micropenis (≤2 cm), with absence of neonatal male-mini puberty were treated for 3 months with ...

hrp0089p1-p203 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

Serum Concentrations of the Endocrine Disruptors-organochlorine Pesticides (OCPs) in Greek Children with Neurodevelopmental Disorders

Makris Gerasimos , Chrousos George , Sabico Shaun , Abd-Alrahman Sherif , Al-Daghri Nasser , Chouliaras George , Pervanidou Panagiota

Background: The exposure to environmental toxicants has been estimated to contribute directly to 3% of human neurodevelopmental disabilities (NDDs). Organochlorine pesticides (OCPs), which are widespread persistent organic pollutants, have been implicated mainly because of their endocrine disruptive nature. Several studies have reported the above relations between maternal serum, the placenta barrier and the breast milk levels of OCPs and NDDs.Aim: The a...