hrp0097p1-206 | Adrenals and HPA Axis | ESPE2023

Adrenal insufficiency is not a common cause of hypoglycemia in children

Gil Margolis Merav , Lilos Pearl , Phillip Moshe , de Vries Liat

Background: Hypoglycemia etiology in children is heterogeneous and varies by age. Both growth hormone (GH) and cortisol deficiencies may present with hypoglycemia; the latter may result in an adrenal crisis that may be fatal.Objectives: To evaluate responses of cortisol and GH to spontaneous hypoglycemia in infants and children, and to assess the rate of true cortisol deficiency in children, defined as cortisol<500 nm...

hrp0097p1-167 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Low-dose pioglitazone for polycystic ovary syndrome in adolescent girls:differential fat-mass redistribution by HOTAIR rs1443512 genotype

de Zegher Francis , Diaz Marta , Ibañez Lourdes

Introduction: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOTAIR and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is thus a candidate to inf...

hrp0098p1-223 | Bone, Growth Plate and Mineral Metabolism 3 | ESPE2024

Determinants of bone mineral density in healthy term-born children at age 6 months

Dorrepaal Demi , van Beijsterveldt Inge , de Fluiter Kirsten , Hokken Anita

Background and aims: Insight into which determinants associate with bone mineral density (BMD) is needed for targeted therapy in children with a low BMD for chronological age but also for preventive treatment on population level. Currently, studies investigating determinants of BMD in children aged <4 years are scarce. The primary aim of our study was to assess which determinants associate with BMD total body less head (BMDTBLH) at around age 6 m...

hrp0098p2-278 | Thyroid | ESPE2024

Predictive factors of transient congenital hypothyroidism: a retrospective study

Abad Lorna , de Leon Angela , Bon Maceda Ebner

Introduction: The prevalence of transient congenital hypothyroidism (TCH) in the Philippines has not been reported in a large-scale study. The diagnosis of TCH remains difficult due to its numerous possible etiologies. Identifying its predictive factors may aid in earlier diagnosis and decreased risk of overtreatment. This study aim ed to determine the predictive factors for TCH in children with congenital hypothyroidism (CH) detected by newborn screening (NBS...

hrp0089p3-p400 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Clinical and Molecular Characterization of One Nr5a1 Gene Mutation Found in a Patient WITH 46, XY DSD

Vela Amaya , Lapiscina Idoia Martinez De , Nanclares Gustavo Perez De , Amaia Rodriguez , Rica Itxaso , Castano Luis , Grau Gema

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

hrp0086p1-p470 | Fat Metabolism and Obesity P1 | ESPE2016

Brain Structure, Executive Function and Appetitive Traits in Adolescent Obesity

Jan de Groot Cornelis , van den Akker Erica , Rings Edmond , Delemarre-van de Waal Henriette , van der Grond Jeroen

Background: Children with obesity show differences in brain structure, executive function and appetitive traits when compared to lean peers. Results of imaging studies, however, have been contradictory.Objective and hypotheses: To investigate whether childhood obesity is associated with differences in brain structure and whether differences associate with executive function and appetitive traits.Method: A cross-sectional case-contr...

hrp0086p2-p588 | Perinatal Endocrinology P2 | ESPE2016

Case Report on Hyperinsulinism/hyperammonaemia Syndrome: An Easily Treatable Cause of Postprandial Hypoglycaemia

Seneviratne Sumudu , Jayatunge Tharanga , Atapattu Navoda , De Silva K. S. H. , Wickramasinghe V. P. , De Silva Harendra

Background: Hyperinsulinism/hyperammonaemia (HI/HA) syndrome is associated with postprandial hypoglycaemia and mild hyperammonemia. There is increased insulin release following protein ingestion, which is amenable to diaxozide therapy. While developmental delay and normoglycaemic seizures can also occur, hepatomegaly has not been reported. We report a child with HI/HA and hepatomegaly, mild learning difficulty and obesity, who was initially mistaken to have glycogen storage di...

hrp0082p1-d3-89 | Diabetes (2) | ESPE2014

Nutritional Status and Respiratory Function in Patients Affected by Cystic Fibrosis and Glucose Metabolism Derangements after 4 Years of Insulin Therapy with Glargine

Mozzillo Enza , Raia Valeria , Fattorusso Valentina , Cerrato Carla , De Nitto Elena , De Gregorio Fabiola , Sepe Angela , Valerio Giuliana , Franzese Adriana

Background: The glucose metabolism derangements (GMD) can have an important impact on nutritional status and respiratory function in patients with cystic fibrosis (CF).Objective and hypotheses: The aim of our study is to evaluate the effects of 4 years of glargine therapy in patients affected by CF and GMD.Method: All CF patients attended to the Center of Cystic Fibrosis of our department were screened by oral glucose tolerance tes...

hrp0082p1-d3-133 | Fat Metabolism &amp; Obesity (2) | ESPE2014

Can We Predict the Risk of Obesity?

de Arriba Antonio , Pascual Javier , de Francisco Mario , Ferrer Marta , Martinez Ignacio , Labarta Jose Ignacio , Ferrandez Angel

Background: Recognizing the risk of developing obesity is essential to implement preventive measures to avoid the increasing prevalence of obesity in adulthood.Objective: To evaluate predictive factors that may be associated with overweight and obesity in early adulthood.Method: A regression analysis of different variables of body composition in a normal population have been done. The sample consisted of 122 boys and 120 girls foll...

hrp0082p2-d3-477 | Hypoglycaemia | ESPE2014

Opioid-Induced Endocrinopathy in a Toddler with Chronic Codeine Intoxication

Van Aken Sara , Van Der Straaten Saskia , De Waele Kathleen , Cools Martine , Craen Margarita , De Schepper Jean

Background: Several studies in adults have provided evidence for opioid-induced hypofunction of the hypothalamo-pituitary–adrenal and GH–IGF1 axis after chronic (oral and intrathecal) administration. This so-called opioid endocrinopathy has not been reported in children.Objective and hypotheses: We report the occurrence of delayed growth with low serum IGF1 levels and recurrent hypoglycemia due to central hypocorticism in a toddler after a pres...