hrp0097p2-254 | Late Breaking | ESPE2023

Decrease in the percentage of eutrophic adolescents in Brazil, temporal evaluation from 2010 to 2022.

M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís , M Pinto Renata

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...

hrp0097p2-264 | Late Breaking | ESPE2023

Improvement in the nutritional status of Brazilian children under five years of age, evaluation from 2010 to 2022.

M Pinto Renata , M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís

Introduction: The good nutritional status of children in the first years of life is essential for their healthy growth and development. Evaluating the repercussions of nutritional status is fundamental since nutrition can influence both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 0 to 5 between 2010 and 2022.Patients and methods:...

hrp0092p1-7 | Adrenals and HPA Axis | ESPE2019

Influence of Internal Standards Choice on Quantification of 17α-hydroxyprogesterone (17OHP) Using Mass Spectrometric Based Methods

Greaves Ronda , Hartmann Michaela F. , Zakaria Rosita , Shun Ho Chung , de Rijke Yolanda B. , van den Berg Sjoerd , Cooke Brian , Hoad Kirsten , Graham Peter , Davies Stephen , Mackay Lindsey , Ping Loh Tze , Wudy Stefan A.

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

hrp0092p1-139 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Gonadal Function of Female Patients with Noonan Syndrome

Moniez Sophie , Capri Yline , Pienkowski Catherine , Lepage Benoit , Hamdi Safouane , Cartault Audrey , Oliver Isabelle , Jouret Béatrice , Diene Gwenaelle , Salles Jean-Pierre , Cavé Hélène , Verloes Alain , Tauber Maithé , Yart Armelle , Edouard Thomas

Background: Abnormalities in the hypothalamo-pituitary-gonadal axis have been reported in Noonan syndrome (NS) males but few data are available in female patients. Objective: The aim of this retrospective study was to evaluate the gonadal function of female patients with NS and to look for genotype-phenotype correlations. Patients and Methods: The study population included 19 girls/adolescents with a genetically confirmed diagnosis of NS and with available cli...

hrp0092p1-158 | Adrenals and HPA Axis (1) | ESPE2019

Influence of Internal Standards Choice on Quantification of 17α-hydroxyprogesterone (17OHP) Using Mass Spectrometric Based Methods

Greaves Ronda , Hartmann Michaela F. , Zakaria Rosita , Ho Chug Shun , de Rijke Yolanda B. , van den Berg Sjoerd , Cooke Brian , Hoad Kirsten , Graham Peter , Davies Stephen , Mackay Lindsay , Loh Tze Ping , Wudy Stefan A.

Objective: This project aims to evaluate the effect of two isotopically labelled internal standards on the quantification of 17OHP by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and gas chromatography-tandem mass spectrometry (GC-MS/MS) as an orthogonal technique.Methods: Three LC-MS/MS and one GC-MS/MS laboratories, spanning four countries worldwide, who routinely measure serum17OHP, compared two internal ...

hrp0092p2-12 | Adrenals and HPA Axis | ESPE2019

A Case of X-linked Adrenoleukodystrophy Presenting with Primary Adrenal Insufficiency and Normal VLCFA

Özkaya Beyhan , Acar Sezer , Özdemir Taha R. , Nalbantoglu Özlem , Köprülü Özge , Arslan Gülçin , Kutbay Yasar B. , Özkan Behzat

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare autosomal recessive neurodegenerative disease caused by a mutation in the ABCD1 gene. Although its clinical presentation varies, X-ALD is generally characterized by progressive demyelination of the central nervous system, primer adrenal insufficiency, and elevated plasma very long-chain fatty acid (VLCFA) levels. Herein, we aimed to present a case of X-ALD with normal VLCFA caused by a path...

hrp0089fc15.3 | Growth and Syndromes | ESPE2018

Methylation of the C19MC microRNA Locus in the Placenta: A Mechanism whereby Maternal Body Size Links to that of the Child

Xargay-Torrent Silvia , Prats-Puig Anna , Mas-Pares Berta , Bassols Judit , Petry Clive J , Girardot Michael , de Zegher Francis , Ibanez Lourdes , Dunger David B , Feil Robert , Lopez-Bermejo Abel

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspringÂ’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

hrp0089rfc3.3 | Diabetes and Insulin 1 | ESPE2018

Significant Prevalence of Severe Monogenic Immune Defects Among Children with Type 1 Diabetes and Low T1D-Genetic Risk Score

Pruhova Stepanka , Strakova Veronika , Elblova Lenka , Johnson Matthew B , Dusatkova Petra , Obermannova Barbora , Petruzelkova Lenka , Kolouskova Stanislava , Snajderova Marta , Fronkova Eva , Svaton Michael , Lebl Jan , Hattersley Andrew T , Sumnik Zdenek

Introduction: Monogenic Type 1 diabetes (T1D) is a rare disease caused by pathogenic variant in a single gene leading to dysregulation of immune system. T1D is combined with other autoimmunity like immune cytopenias, inflammatory bowel disease, rheumatoid arthritis, atopic eczema, autoimmune thyroid disease etc in these patients. Pathogenic variants in the AIRE, FOXP3, LRBA, IL2RA, CTLA4, STAT3 and STAT1 genes have...

hrp0089p3-p398 | GH & IGFs P3 | ESPE2018

Recombinant Growth Hormone Therapy in Prepubertal Children with Idiopathic Short Stature in Korea: A Phase III Randomized Trial

Im Minji , Kim J , Suh B-K , Ko CW , Lee K-H , Shin CH , Hwang JS , Kim HS , Chung WY , Kim CJ , Han H-S , Kwon NY , Cho SY , Yoo H-W , Jin D-K

Several studies have evaluated the effects of growth hormone (GH) on auxological and biochemical parameters in children with non-GH-deficient, idiopathic short stature (ISS). This study evaluated the efficacy and safety of GrowtropinR-II (recombinant human GH) in Korean patients with ISS. This was a 1-year, open-label, multicenter, phase III randomized trial of Growtropin-II in Korean patients with ISS. In total, 70 prepubertal subjects (39 males, 31 females) betwee...

hrp0086fc7.1 | Gonads & DSD | ESPE2016

Early Loss of Germ Cells in Testis of Androgen Insensitivity Syndrome Patients

Aliberti Paula , Marino Roxana , Ramirez Pablo , Garrido Natalia Perez , Solari Alberto J. , Sciurano Roberta , Ponzio Roberto , Costanzo Mariana , Guercio Gabriela , Warman Diana M. , Mutti Maria L. Galluzzo , Lubieniecki Fabiana , Bailez Marcela , Rivarola Marco A. , Belgorosky Alicia , Berensztein Esperanza B.

Background: In Androgen insensitivity syndrome (AIS) is a hereditary disease in which AR mutations in 46,XY patients present with partial (PAIS) or complete (CAIS) defects in virilisation.Objective and hypotheses: The aim was to analyze the effect of lack of androgen action in germ cell (GC) health and survival along postnatal development, previous to Sertoli cell (SC) pubertal maturation.Method: The histological features and quant...