hrp0092p1-126 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Longitudinal Changes in External Masculinisation Scores in Boys with XY Disorder of Sex Development (DSD)

Alimussina Malika , Kraria Loubna , Ahmed S Faisal

Introduction: Although, there are several studies that use the external masculinisation score (EMS) for numerical description of the external genitalia in infants with DSD, data on change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.Methods: Ob...

hrp0084p1-4 | Adrenal | ESPE2015

Effect of CYP17A1 Inhibitors Orteronel and Galeterone on Adrenal Androgen Biosynthesis

Udhane Sameer S , Pandey Amit V

Background: The cytochrome P450 CYP17A1 plays a vital role in regulating adrenal androgen production. The 17,20 lyase activity of CYP17A1 is key for androgen regulation. The orteronel and galeterone are known to inhibit 17,20 lyase activity however the detailed mechanisms of the inhibition of CYP17A1 activities remain unknown. These inhibitors have been developed to treat the castration resistant prostate cancer (CRPC) but little is known about their effects on adrenal androge...

hrp0094p2-119 | Diabetes and insulin | ESPE2021

First Survey About Pediatric Diabetes Services in Iraq

Faisal Rehab , Abdoun Dawood S. , Alsaffar Hussain ,

Background: Diabetes mellitus is the second most common chronic disease of childhood. It requires appropriate management and follow up to reduce the complications. Type 1 diabetes mellitus (T1DM) is the most common type of diabetes that affects children. Most of the developed countries launched registries. In Iraq, there is no access to statistics or national report about the provided service. Rather, there is no standardization of the practice.<p class="a...

hrp0095fc2.2 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Final heights in 398 patients with X-linked hypophosphatemia (XLH) over the last decades in France, a surrogate marker of improved disease management. Study of a large cohort of XLH patients born between 1950 and 2006.

Berkenou Jugurtha , Boros Emese , Amouroux Cyril , Bacchetta Justine , Briot Karine , Edouard Thomas , Gueorgieva Iva , Girerd Barbara , Kamenicky Peter , Lecoq Anne-Lise , Marquant Emeline , Mignot Brigitte , Porquet Bordes Valérie , Salles Jean-Pierre , Zhukouskaya Volha , Linglart Agnès , Rothenbuhler Anya

Introduction: XLH is caused by mutations in PHEX leading to increased FGF23 levels, phosphate wasting, and impaired endogenous calcitriol synthesis. Affected patients present with rickets and diminished growth velocity during childhood, and osteomalacia and short stature in adulthood. Adult height is linked with health within and across generations suggesting that adult height may be a potential tool for monitoring health conditions, e.g., XLH.<p ...

hrp0095p1-322 | Growth and Syndromes | ESPE2022

Analysis of genetic variability in 134 women with Turner Syndrome using high-throughput next-generation sequencing

P. Suntharalingham Jenifer , Ishida Miho , Cameron-Pimblett Antoinette , M. McGlacken-Byrne Sinead , Del Valle Ignacio , Buonocore Federica , Brooks Anthony , Kaur Madhan Gaganjit , Genomics Sequencing Facility UCL , S. Conway Gerard , C. Achermann John

Background: Turner syndrome (TS) affects 1:2,500 females and results from complete or partial loss of one of the X chromosomes. Typical traits associated with TS include short stature, primary ovarian insufficiency (POI), autoimmune diseases, and cardiovascular and endocrine disorders. Long-term follow-up is needed from the time of presentation into adult life. Several genetic mechanisms have been proposed to account for the development of TS-associated featur...

hrp0092p1-15 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

The Overweight and Obesity Decrease the Growth Potential in Mexican Children and Adolescents

Miranda-Lora América Liliana , Espinosa-Espíndola Montserrat , López-González Desireé , Loyo Mariana-Sánchez-Curiel , Dies Pilar , Klünder-Klünder Miguel

Background: The bone age (BA) assess the skeletal maturity and determine the children linear growth. Mexican children have a slightly delay in skeletal maturity before 10 years, but they reach in mean a BA 1 year in advance at the end of the puberty. On the other hand, Mexico has a high prevalence of childhood obesity and the adiposity has been associated with the BA advance in other populations. For the above, the overweight and obesity could be impact in the...

hrp0097lb5 | Late Breaking | ESPE2023

Clinical phenotyping of patients with genetic obesity

S. Welling Mila , Mohseni Mostafa , E.H. Meeusen Renate , R. Boon Mariëtte , J. de Groot Cornelis , M. van Haelst Mieke , A. Visser Jenny , L.T. van den Akker Erica , F.C. van Rossum Elisabeth

Introduction: In rare cases of obesity, genetic defects lead to hyperphagia and severe early-onset obesity. Genetic testing in patients with a suspected genetic obesity phenotype is important, as it can lead to patient-tailored treatment advice. For children, the Endocrine Society (ES) recommends genetic testing in children with early-onset of obesity (<5 years) and hyperphagia. It is unclear whether these recommendations can also be used in adult obesity c...

hrp0084p1-79 | Growth Hormone | ESPE2015

Decrease of Jumping Power in Adolescents with Severe GHD After Stop of GH-Therapy

Schweizer Roland , Ziegler Julian , Binder Gerhard

Background: Recently we demonstrated that male adolescents with severe GHD (sGHD) had a significant decrease of lean body mass and increase in fat mass after stop of GH-therapy. The functional consequence of this observation is unknown.Objective and hypotheses: The aim was to study the changes in parameters of jumping mechanography in adolescents with GHD in the transition period (end of growth) after stop of GH-therapy.Patients an...

hrp0089p3-p385 | Thyroid P3 | ESPE2018

Rare Case Report of Thyroiditis De Quervain in a Six Years Old Girl

Liapi Maria , Jorch Norbert , Hamelmann Eckard

Introduction: Subacute thyroiditis or De Quervain’s Thyroiditis is a self-limited inflammatory thyroid disease that is considered to be caused by a viral infection. Its incidence during the first decade of life is extremely rare. During the acute phase of the disease which lasts 2 to 6 weeks, the inflammatory process results in a temporary release of thyroid hormone with biochemical hyperthyroidism with or without symptoms. This phase is followed by a period with failing ...

hrp0082p3-d1-769 | Fat Metabolism &amp; Obesity | ESPE2014

The Importance of Weight for Height for Prediction of Metabolic Syndrome in Obese Children and Adolescents: Impact of Gender and Pubertal Status

Ozhan Bayram , Ersoy Betul , Kiremitci Seniha

Background: We aimed to assess whether or not anthropometric indices such as weight circumference (WC), waist/hip ratio (WHR), waist-height ratio (WHtR), and weight for height (W/H) are predictors for metabolic syndrome (MetS) among obese children and adolescents. We aimed to describe effects of gender and pubertal status on these anthropometric indices.Method: A total of 291 obese children and adolescents (160 girls and 131 boys, age range: 6–16 ye...