hrp0089p2-p298 | Multisystem Endocrine Disorders P2 | ESPE2018

Fanconi-Bickel Syndrome in Sudanese Children, Case Series

SA Elhassan , AM Arabi , MA Abdullah , FH Sansbury

Introduction: Fanconi-Bickel syndrome (FBS), is a rare autosomal recessive disorder of carbohydrate metabolism (FBS, OMIM 227810), caused by defects in the facilitative glucose transporter glut-2, which transports glucose in and out of hepatocytes, pancreatic β cells and basolateral membranes of intestinal and renal epithelial cells. Characteristic features include growth failure, hepatomegaly, glucose and galactose intolerance, fasting hypoglycemia, and renal tubular nep...

hrp0092rfc1.3 | Diabetes and Insulin Session 1 | ESPE2019

The Association Between IGF-1 levels and Nonalcoholic Fatty Liver Disease (NAFLD) in Adolescents with Type 2 Diabetes

Orozco Morales Jose Antonio , Torres Tamayo Margarita , Suárez Pilar Dies , López Martínez Briceida , Liliana América , Medina Bravo Patricia Guadalupe

Background: Type 2 diabetes (T2D) is an emerging disease in the pediatric population. The mechanisms responsible for the development of nonalcoholic fatty liver disease (NAFLD) and progression to nonalcoholic steatohepatitis (NASH) in these patients are incompletely understood. Low serum insulin-like growth factor-1 (IGF-1) levels are associated with increased histologic severity of NAFLD. Growing evidence suggests that growth hormone (GH) and IGF-1 may have r...

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...

hrp0097p1-400 | Adrenals and HPA Axis | ESPE2023

11-oxygenated androgens as biomarkers in congenital adrenal hyperplasia: reference intervals for children

P.H. Adriaansen Bas , oude-Alink Sandra , W. Swinkels Dorine , A.M. Schröder Mariska , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen - van der Grinten Hedi , E. van Herwaarden Antonius

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

hrp0089p3-p292 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

MRI Changes in Time after Cranial Irradiation, and their Relation with Pituitary Function in Survivors of Childhood Medulloblastoma

van Ommen CCN , van Iersel L , Lequin MH , Clement SC , Janssens GOR , Boot AM , Caron HN , Claahsen-van der Grinten HL , Granzen B , Han KS , Michiels E M , van Trotsenburg ASP , Vandertop WP , van Vuurden DG , Kremer LCM , Schouten-van Meeteren AYN , van Santen HM

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

hrp0094p1-1 | Adrenal A | ESPE2021

Optimizing the timing of highest hydrocortisone dose in children and adolescents with 21-hydroxylase deficiency

Schroder Mariska A.M. , van Herwaarden Antonius E. , Span Paul N. , Akker Erica L.T. van den , Bocca Gianni , Hannema Sabine E , Kamp Hetty J. van der , Kort Sandra W.K. de , Mooij Christiaan F. , Schott Dina A. , Straetemans Saartje , Tellingen Vera van , Velden Janielle A. van der , Sweep Fred C.G.J , Claahsen-van der Grinten Hedi L. ,

Context: Children with 21-hydroxylase deficiency (21OHD) require chronic glucocorticoid administration to substitute glucocorticoids and suppress adrenocorticotropic hormone-induced hyperandrogenemia. There is still no evidence about the best timing of the highest hydrocortisone (HC) dose. Administration of the highest dose in the morning aims to mimic the physiological rhythm of cortisol, while a high dose late in the evening may inhibit the early-morning inc...

hrp0097p1-101 | GH and IGFs | ESPE2023

Withdrawing growth hormone treatment at mid-puberty in idiopathic isolated growth hormone deficiency: baseline characteristics in patient-preference design study

Vliegenthart Joeri , Wit J.M. , Bakker B. , Boot A.M. , de Bruin C. , Finken M.J.J. , van der Heyden J.C. , Houdijk E.C.A.M. , van der Kamp H.J. , van Mil E.G.A.H. , Reedijk A.M.J. , Sas T.C.J. , Schott D.A. , van Setten P. , Straetemans S. , van Tellingen V. , Touwslager R.N.H. , van Trotsenburg A.S.P , Voorhoeve P.G. , van der Kaay D.C.M.

Background: The majority of children diagnosed with idiopathic isolated growth hormone deficiency (IIGHD) show a normal growth hormone (GH) secretion (assessed by GH stimulation tests) when retested at near adult height (NAH). It appears plausible that if normal stimulated GH secretion is observed in mid-puberty, continuing recombinant human GH (rhGH) treatment may only have a minor effect on NAH. The effect on NAH has never been investigated in a prospective ...