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...

hrp0094p2-344 | Multisystem endocrine disorders | ESPE2021

Thermoregulatory delays in Greek PCOS adolescents

Geronikolou Styliani , Chrousos George , Cokkinos Dennia , Bacopoulou Flora ,

In this case-control study 19 Greek adolescents with Polycystic Ovary Syndrome (PCOS) and 21 non-PCOS controls were assessed for their hormonal, somatometric and autonomic nervous system profile in supine position. The study adhered to the Helsinki Guidelines of Good Clinical Practice. Significant differences were found only in very low frequencies (VLF) (P = 0.008) and Power spectral density RR (PSD) (P < 0.001) between adolescents with PCOS and controls...

hrp0098p1-142 | Fat, Metabolism and Obesity 3 | ESPE2024

The effect of a personalized, lifestyle intervention program on SFRP5 concentrations in children and adolescents with obesity

Koutaki Diamanto , Paltoglou George , Michos Athanasios , Bacopoulou Flora , Charmandari Evangelia

Background: Secreted frizzled-related protein 5 (Sfrp5) is a relatively novel adipokine with anti-inflammatory properties. Recent evidence suggests that it plays a role in obesity and its metabolic complications. However, data on Sfrp5 regulation in relation to obesity in children are scarce.Objective: To investigate the effect of a 1-year personalized, comprehensive, multi-disciplinary, lifestyle intervention program of...

hrp0098p2-94 | Fat, Metabolism and Obesity | ESPE2024

Phenotype, Genotype and Follow-up of Pediatric Hypertriglyceridemia: An Indian Perspective

Banerjee Sayan , George Arun , Nanda Pamali , Bala Anju , Dayal Devi

Objective: Pediatric hypertriglyceridemia (HTG), has considerable phenotypic and genotypic variability. We aim ed to describe the clinical and genotypic profile of Indian children presenting with severe HTG.Methods: This retrospective study (January 2022-December 2023) was conducted in children up to 12 years of age. Those presenting with severe HTG (triglycerides >500 mg/dL) were included after exclusion of known sec...

hrp0082fc10.5 | Programming &amp; Early Endocrinology | ESPE2014

Contrasting Associations of Maternal Smoking and Alcohol Intake in Late Pregnancy and Offspring Body Composition in Childhood

Moon Rebecca , D'Angelo Stefania , Davies Justin , Dennison Elaine , Robinson Sian , Inskip Hazel , Godfrey Keith , Harvey Nicholas , Cooper Cyrus

Background: There is increasing recognition that the in utero environment might influence obesity risk.Objective and Hypotheses: We explored the hypothesis that smoking and alcohol consumption in pregnancy are associated with offspring body composition using the Southampton Women’s Survey mother-offspring birth cohort study.Method: At 34 weeks’ gestation, maternal smoking and any alcohol intake in the preceding 1...

hrp0084p1-127 | Thyroid | ESPE2015

Transient vs Permanent Congenital Hypothyroidism: The Use of Baseline Characteristics and Long-Term Data Can Help Formulate a Practical Prognostic Algorithm

Giogli Vassiliki , Kanaka-Gantenbein Christina , Chouliaras George , Arditi Jessica-Debora , Gika Anna , Iliadi Alexandra , Platis Dimitris , Kyritsi Eleni Magdalini , Karkalousos Petros , Karikas George-Albert , Mengreli Chrysanthi , Chrousos George , Girginoudis Panagiotis , Voutetakis Antonis

Background: Implementation of neonatal screening programs for congenital hypothyroidism (CH) has reduced related nosologies and has eradicated CH-associated mental impairment. With the decrease of the TSH cut-off limits employed to avoid false negative results, milder cases of CH are diagnosed. Obviously, in a number of patients, especially among milder CH cases, thyroid dysfunction is transient. The diagnosis of transient vs. permanent CH is established in time. No specific p...

hrp0092p1-394 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Next Generation Sequencing in GnRH Deficient Patients with Congenital Hypogonadotrophic Hypogonadism: Novel Findings in KAL1, SRA1, WDR11, FGFR1, CHD7 and PROP1 Genes

Neocleous Vassos , Fanis Pavlos , Toumba Meropi , Cinarli Feride , Schiza Melpo , Stylianou Charilaos , Tanteles George A , Oulas Anastasios , Spyrou George M , Skordis Nicos , Phylactou Leonidas A

Abstract: Objective: Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic disease caused by GnRH deficiency and characterized by absent or incomplete puberty with infertility. The identification of the genetic cause in this group of patients through the use of next generation sequencing (NGS) can assist to the clinical management.Methods: Seven GnRH deficient nonrelated Cypriot probands were ...

hrp0082fc6.1 | Gonads &amp; DSD | ESPE2014

Search for Genetic Defects in the Transcription Factor Genes FOXL2, FOXE1, BMP15, NOBOX, and GDF9 in Children, Adolescents and Young Adults With Premature Ovarian Insufficiency POI

Settas Nikolaos , Anapliotou Margarita , Deligeoroglou Euthimios , Kanavakis Emmanuel , Fryssira Eleni , Kanaka-Gantenbein Christina , Michala Lina , Dacou-Voutetakis Catherine , Creatsas George , Chrousos George P , Voutetakis Antonis

Background: Molecular defects are rarely detected in Premature ovarian insufficiency (POI) patients.Objective and Hypotheses: We hypothesized that the frequency of causative molecular defects could be higher in cases with early onset of POI. Moreover, the analysis of multiple genes in the same POI group could disclose co-existence of more than one molecular aberration.Method: In 25 subjects, aged 17.1±7 years at POI onset, bid...

hrp0082p1-d2-3 | Adrenals &amp; HP Axis | ESPE2014

Transient Generalized Glucocorticoid Hypersensitivity: Clinical Manifestations, Endocrinologic Evaluation, and Transcriptomic Profile: the Potential Role of nf-κb

Nicolaides Nicolas C , Lamprokostopoulou Agaristi , Polyzos Alexandros , Kino Tomoshige , Katsantoni Eleni , Triantafyllou Panagiota , Christophoridis Athanasios , Katzos George , Drakopoulou Maria , Sertedaki Amalia , Chrousos George P , Charmandari Evangelia

Background: Transient generalized glucocorticoid hypersensitivity is a rare disorder characterized by increased tissue sensitivity to glucocorticoids and compensatory hypoactivation of the hypothalamic–pituitary–adrenal (HPA) axis. The condition itself and the molecular mechanisms that underlie its pathophysiology have not been elucidated as yet. Adenovirus 36 has been reported to cause obesity in various animal species.Objective and Hypotheses...

hrp0084p1-126 | Thyroid | ESPE2015

Characteristics and Outcome of Neonates with Congenital Hypothyroidism Born After In Vitro Fertilisation

Giogli Vassiliki , Kanaka-Gantenbein Christina , Arditi Jessica-Debora , Platis Dimitris , Chouliaras George , Kourkouti Chrysoula , Kosteria Ioanna , Gika Anna , Iliadi Alexandra , Chrousos George , Girginoudis Panagiotis , Voutetakis Antonis

Background: In vitro fertilisation (IVF) has been widely used during the last decades. Increased susceptibility to birth defects and a higher cardiometabolic risk in children born after IVF than naturally conceived (NC) children have been reported. Also, a higher incidence of hyperthyrotropinemia has been noted in children born after IVF with respect to NC children and has been attributed to an epigenetic modification of the TSH set-point.Object...