hrp0089p2-p154 | Fat, Metabolism and Obesity P2 | ESPE2018

Hair Cortisol Concentrations in Overweight and Obese Children and Adolescents

Genitsaridi Sofia , Karampatsou Sofia , Papageorgiou Ifigeneia , Mantzou Aimilia , Paltoglou Georgios , Kourkouti Christie , Papathanasiou Chryssanthi , Kassari Penio , Nicolaides Nicolas C , Charmandari Evangelia

Background: Obesity in childhood and adolescence represents a major health problem of our century that has reached epidemic proportions globally during the last decades. In obese subjects, a relatively high cortisol output in urine has been observed compared to nonobese individuals. However, cortisol concentrations in blood, saliva, and urine in association with obesity have not been consistent across studies. Hair cortisol concentrations (HCC) determined in scalp hair provide...

hrp0086fc3.4 | Pituitary | ESPE2016

A Novel Mutation in Eukaryotic Translation Initiation Factor 2 Subunit 3 (EIF2S3) is Associated with X-Linked Hypopituitarism and Glucose Dysregulation

Gregory Louise C. , Williams Hywel , Rahman Sophia , Ferreira Carolina B. , Alatzoglou Kyriaki S. , Kapoor Ritika R. , Hussain Khalid , Gaston-Massuet Carles , Kelberman Daniel , Qasim Waseem , Dattani Mehul T.

Background: A mutation in EIF2S3 (NM_001415; Xp22.11) was previously associated with microcephaly and developmental delay in a single pedigree. EIF2S3 encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 initiates protein synthesis by forming a ternary complex with GTP and initiator methionyl-tRNA which then binds to the 40S ribosomal subunit, enabling scanning of mRNA from the 5′ end to...

hrp0086rfc13.7 | Management of Obesity | ESPE2016

Early Onset Obesity and Hyperphagia Associated with Defects in the GNAS Gene

Garcia Marta , Espinosa Nuria , Guerrero-Fernandez Julio , Salamanca Luis , Morais Ana , Gracia Ricardo , Elkoro Intza Garin , Casado Isabel Gonzalez , de Nanclares Guiomar Perez , Moreno Jose C.

Background: Imprinted genes are known to regulate fetal growth and a ‘parental conflict’ model predicts that paternally and maternally expressed imprinted genes promote and inhibit fetal growth, respectively. GNAS is a complex imprinted locus with multiple oppositely imprinted gene products. Maternal, but not paternal, G(s)alpha mutations lead to obesity in pseudohypoparathyroidism type IA (PHPIA). However, the disorder rarely causes severe obesity in infancy as pred...

hrp0086p1-p7 | Adrenal P1 | ESPE2016

Transient Generalized Glucocorticoid Hypersensitivity Syndrome

Kyritsi Eleni Magdalini , Nicolaides Nicolas C , Lamprokostopoulou Agaristi , Xaidara Athina , Georgiadou Elizabeth , Dimitropoulou Vassiliki , Stefa Alketa , Sertedaki Amalia , Chrousos George P , Charmandari Evangelia

Background: Transient Generalized Glucocorticoid Hypersensitivity (TGGH) 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 underlying molecular mechanisms have not been fully elucidated.Objective and hypotheses: To present the clinical manifestations, endocrinologic evaluation and molecular studies in ...

hrp0086p2-p770 | Pituitary and Neuroendocrinology P2 | ESPE2016

Postoperative Water and Electrolyte Disorders and Affecting Factors in Children with Intracranial Tumors

Akbas Emıne Demet , Doger Esra , Ugurlu Aylın Kılınc , Bıdecı Aysun , Camurdan Orhun , Cınaz Peyamı

Introduction: Water and electrolyte disorders due to anterior and posterior pituitary deficiencies are common in children which are referred with intracranial tumors, especially arising from suprasellar and pituitary regions. But the prevelance and affecting factors of these disorders are not clear. We aimed that to determine the prevelance of postoperative water and electrolyte disorders and affecting factors in pediatric patients with intracranial tumors.<p class="abstex...

hrp0082fc13.1 | Thyroid | ESPE2014

Massive Sequencing of Thyroidal Genes Reveals Unexpected Polygenic Defects in Dyshormonogenic Hypothyroidism

Iglesias A , Garcia M , Ventura P , Pozo J , Clemente M , Audi L , Corripio R , Garikano K , Polak M , del Pozo A , Visser T J , Moreno J C

Background: Dyshormonogenic hypothyroidism is classically a monogenic disease with recessive inheritance. Thyroid dysgenesis showed a multigenic origin in a mouse model of double-heterozygous deletions of Nkx2.1/Pax8 transcription factor genes, suggesting a possible polygenic nature of certain cases of human hypothyroidism.Objective and Hypotheses: To investigate genetic traits of polygenic involvement in dyshormonogenic hypothyroidism,...

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...

hrp0082p2-d1-264 | Adrenals &amp; HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

hrp0094fc6.4 | Bone and Mineral Metabolism | ESPE2021

Use of Aids, Assistive Devices and Adaptations (AADAs) by Individuals Aged <25 Years with Fibrodysplasia Ossificans Progressiva (FOP): 36-Month Results from a Global Natural History Study (NHS)

Hsiao Edward C. , Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , De Cunto Carmen , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: Individuals with the ultra-rare genetic disorder FOP experience progressive heterotopic ossification. Median age at diagnosis is 5 years; patients are supported by multiple specialties. Most patients become immobilised by the third decade of life, requiring lifelong assistance. We characterise AADA use as an indicator of disease severity in younger individuals with FOP enrolled in a 36-month, prospective, global NHS (NCT02322255).<p class="abst...

hrp0094p1-51 | Bone B | ESPE2021

A Global Natural History Study (NHS) of Fibrodysplasia Ossificans Progressiva (FOP): Normal Long Bone Growth and Abnormalities in Younger Patients over 36 Months

Pignolo Robert J. , Baujat Genevieve , Brown Matthew A. , Cunto Carmen De , Hsiao Edward C. , Keen Richard , Mukaddam Mona Al , Marino Rose , Houchard Aude , Kaplan Frederick S. ,

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification. The median age at diagnosis is 5 years and patients are supported by multiple specialties. We describe normal long bone growth changes and incidence of bone abnormalities in participants with FOP aged <18 years in a 3-year, prospective, global NHS (NCT02322255).Methods: Individuals with FOP age...