hrp0084p2-482 | Growth | ESPE2015

Childhood Growth of Boys with Congenital Hypogonadotropic Hypogonadism

Varimo Tero , Hero Matti , Laitinen Eeva-Maria , Miettinen Paivi , Tommiska Johanna , Juul Anders , Raivio Taneli

Background: Congenital hypogonadotropic hypogonadism (CHH) provides a model to study the impact of sex steroid deficiency on childhood growth.Aims and objectives: We characterised growth patterns in male CHH patients with special emphasis on growth during the minipuberty of infancy.Methods: Growth charts of 38 men with CHH (28 from Finland and 10 from Denmark) were evaluated. Fifteen (39%) patients had representative length measure...

hrp0097p1-285 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Severe Neonatal Donohue Syndrome: Extreme Hyperinsulinemia, Progressive Hypertrophic Cardiomyopathy (HCM) and Failure to Thrive

Lämmer Constanze , Langer Johanna , de Potzolli Brigitte , Liebl Stefanie , M.K. Völkl Thomas

Introduction: Donohue syndrome (DS) is presenting as the most severe form of insulin resistance. Most of the patients are dying within the first two years of life. As potential treatment has been described the administration of rhIGF1 (Mecasermin) to stimulate the pathway of insulin-like action. An improved metabolic control was reported with continuous subcutaneous administration of rhIGF1 instead of twice daily injections [Plamper 2018].<p class="abstext...

hrp0082p2-d1-412 | Growth Hormone | ESPE2014

ALS Deficiency due to a Novel and Two Already Described IGFALS Gene Mutations in an Unusual Non Consanguineous Family: Two Compound Heterozygous (Father and Son) and Two Heterozygous Carriers (Brother and Mother)

Scaglia Paula , Keselman Ana , Martucci Lucia , Karabatas Liliana , Ballerini Maria Gabriela , Domene Sabina , Johanna Acosta , Jasper Hector , Domene Horacio

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

hrp0086wg2.2 | ESPE Obesity Working Group (OWG) | ESPE2016

Bariatric Surgery in Obese Adolescents

Dahlgren Jovanna

Background: Childhood obesity is a serious medical condition where excess body fat negatively affects a child’s health. Although prevention is the primary step, there will be obese adolescents who benefit from bariatric surgery. There are four bariatric methods (all using laparoscopic technique): Adjustable Gastric Banding (AGB), Roux-en Y Gastric bypass (RYGB), sleeve gastrectomy and Bilio-Pancreatic Diversion (BPD). In Sweden we predominantly use RYGB as it improves eat...

hrp0082fc7.4 | Growth promoting therapies | ESPE2014

A Decade of Clinical Experience in a Swedish University Centre Using Prediction Models to Optimize GH Treatment in Prepubertal Children

Dahlgren Jovanna

Background: The individual growth response on a certain GH dose is an indirect measurement of tissue responsiveness to GH. Several models of predicting the first year growth response on GH treatment are published and a clinical trial has been performed based on these algorithms. However, no clinical unit has evaluated the practical use of these prediction models on GH treatment.Objective and Hypotheses: To use prediction models in clinical practice to ch...

hrp0092t10 | Top 20 Poster | ESPE2019

Changes in Adrenal Androgens and Steroidogenic Enzyme Activities in Children Aged 2, 4, and 6 Years: Steroid Hormone Profiling From the Prospective Cohort Study

Hyun Kim Jae , Ah Lee Young , Ho Shin Choong , Yang Sei Won , Song Junghan , Lim Youn-Hee , Kim Bung-Nyun , Inhyang Kim Johanna , Hong Yun-Chul

Introduction: Adrenarche refers to the increase in adrenal androgen synthesis. However, process of adrenal androgen production in early childhood remains to be elucidated. The aim of this study was to evaluate changes in adrenal androgen levels and steroidogenic enzyme activities associated with adrenarche using a prospective cohort.Methods: A total of 229 children (124 boys, 52.4%), who had participated in the Envir...

hrp0092p1-431 | Thyroid (2) | ESPE2019

The Relationship Between Perfluoroalkyl Compounds Concentrations at Ages 2, 4, and 6 Years and Thyroid Function in Early Childhood: A Prospective Cohort Study

Young Kim Hwa , Kim Kyoung-Nam , Ah Lee Young , Lim Youn-Hee , Inhyang Kim Johanna , Kim Bung-Nyun , Oh Se-Young , Hong Yun-Chul , Ho Shin Choong

Backgrounds: Perfluoroalkyl compounds (PFCs) have been suggested as potential thyroid disrupting chemicals. However, previous studies about the associations between PFCs and childhood thyroid function are scarce, and inconclusive. We evaluated the PFC exposure in Korean preschool children, and investigated the temporal relationship with thyroid hormone concentration.Methods: From a prospective the Environment and Develop...

hrp0089p3-p270 | Multisystem Endocrine Disorders P3 | ESPE2018

Case Report: Neonatal McCune–Albright Syndrome with Juvenile Ovarian Granulosa Cell Tumor in a 4 Months Old Girl

Schulz Esther , Klohs Stephan , Konigs Ingo , Maiberger Thomas , Nissen Johanna , Schafer Hansjorg , Saeger Wolfgang , Schnegg Clivia , Mir Thomas , Kozlik-Feldmann Rainer Gerhard , Akkurt Ilker

Introduction: McCune–Albright syndrome (MAS) is a rare disease resulting from a somatic activating mutation of GNAS1 encoding the Gs-alfa subunit of the G-protein coupled membrane receptor responsible for multiple hormonal signaling cascades leading to the classical trias: polyostotic fibrous dysplasia, café-au-lait hyperpigmentation and GnRh independent precocious puberty. Early manifestation is accompanied with multiple organ involvement and may lead to ACTH-indepe...

hrp0089p1-p262 | Thyroid P1 | ESPE2018

Subclinical Hypothyroidism, Thyroid Nodule or Cyst in Prepubertal Children: How Many Children were Diagnosed at Age 6?

Lee Young Ah , Cho Sun Wook , Lim Youn-Hee , Kim Johanna Inhyang , Kim Bung-Nyun , Hong Yun-Chul , Park Young Joo , Shin Choong Ho , Yang Sei Won

Purpose: We investigated the prevalence of subclinical hypothyroidism (SCH) and its risk factors in prepubertal children at age 6. We also evaluated the prevalence of thyroid nodule or cyst and its relationship with SCH in prepubertal children.Methods: From the Environment and Development of Children (EDC) cohort study, 458 prepubertal children (243 boys, mean 5.8 years) who visited at age 6 were included in this study. Serum concentrations of free thyro...

hrp0098p2-321 | Late Breaking | ESPE2024

Lipid lowering therapy, LDL- and non-HDL-cholesterol in children and adolescents with type 1 diabetes: An analysis based on the DPV registry

Becker Marianne , Weiskorn Jantje , Kamrath Clemens , Hammersen Johanna , Bechtold-Dalla Pozza Susanna , Müller-Roßberg Elke , Holder Martin , Burckhardt Marie-Anne , Holl Reinhard

Background: Cardiovascular risk factors largely determine morbidity and mortality in people with type 1 diabetes (T1D). Hyperlipidemia, especially in pediatric patients, is often undertreated, although it can lead to premature atherosclerotic changes. While non-HDL-C (non-HDL-cholesterol) is an important risk factor for cardiovascular events in patients with diabetes, guidelines only define LDL-C treatment targets. According to current ISPAD guidelines, childr...