hrp0095rfc8.3 | Diabetes and Insulin | ESPE2022

Peripheral nerve conduction velocity in children and young adults with type 1 diabetes mellitus as a marker of metabolic control

Oberhauser Sarah , l'Allemand Dagmar , Heldt Katrin , Gozzi Tiziana , Stasinaki Aikaterini , Eilers Miriam , Lütschg Jürg , Broser Philip

Background: Nerve conduction velocity (NCV) abnormalities are considered as early signs of peripheral neuropathy in patients with diabetes mellitus (DM). We investigated which determinants NCV is subject to and how it is related to markers of metabolic control.Methods: We included 51 patients treated at the outpatient clinic of paediatric diabetology because of their type 1 DM and randomly assigned them for a nerve condu...

hrp0095p1-268 | Fat, Metabolism and Obesity | ESPE2022

Preliminary evidence for a strong effect of leptin on mood and behaviour in patients with congenital leptin deficiency

von Schnurbein Julia , Remy Miriam , Brandt Stephanie , Manzoor Jaida , Kohlsdorf Katja , Mahmood Saqib , Hebebrand Johannes , Wabitsch Martin

Purpose: States of starvation are characterized by reduced physical activity and social withdrawal. The reduction of leptin levels during starvation has been proposed to be a mediator of these changes, therefore we aimed to ascertain if leptin substitution in patients with congenital leptin deficiency (CLD) can increase physical activity and improve mood.Methods: Seven CLD patients were filmed prior to and after short te...

hrp0092p3-283 | Late Breaking Abstracts | ESPE2019

Comparison of Densitometric Aspects during the Transition Period in Patients with Congenital and Acquired Pituitary Deficiency: First Argentine Experience

Boquete Hugo , Boquete Carla , Ruibal Gabriela , Suarez Martha , Azaretzky Miriam , Nuñez Chavarria Eleonora , Sequera Ana , Fideleff Hugo

The transition phase is the period from the end of puberty until achievement of full adult maturity. We report the results from 45 patients with pituitary deficiency (15-24.9years), 28 (16males) with congenital insufficiency (G1) and 17 (10males) with acquired disease (G2), evaluated at the end of GH therapy. All cases had confirmed GH deficiency; 89.2 % of cases from G1 had multiple pituitary deficiencies (TSH 23/28, LH/FSH 19/28, ACTH 15/28 and Prolactin 3/28), 94.1 &#37...

hrp0098p1-56 | GH and IGFs 1 | ESPE2024

Body composition abnormalities during the transition stage in males with growth hormone deficiency (GHD) after completion of replacement therapy

Boquete Carla , Boquete Hugo , Galich Ana , Gideleff Gabriel , Azaretzky Miriam , Suarez Martha , Ruibal Gabriela , Iparraguirre Maria , Fideleff Hugo

There is still controversy about body composition after completion of growth hormone (GH) therapy in patients with GHD once final adult height has been reached.Objective: A cross-sectional study was conducted to evaluate body composition in males after GH therapy discontinuation, during the transition stage.Patients and Methods: 18 males with confirmation of persistent GHD (16.7-21.5 years) after G...

hrp0098p1-292 | Thyroid 3 | ESPE2024

Congenital autoimmune thyreoiditis with hypothyroidism: first expression of a STAT-3-associated multisystemic disease with further severe autoimmune manifestations

Ververidou Ourania , Lainka Elke , Kampmann Kristina , Steindor Nora , Schäfer Miriam , Manka Eva , Korsch Eckhard , Kiewert Cordula

Introduction: Gain-of-function mutations in the STAT-3-Gene are associated with multisystemic autoimmune disease. The spectrum of disorders described in this context is highly variable and includes lymphoproliferative disease and (poly-) autoimmune endocrinopathies.Case History: A three-year-old boy was admitted with acute liver failure of unknown cause, necessitating a liver transplant. His medical history included cong...

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...

hrp0089p3-p251 | Growth & Syndromes P3 | ESPE2018

Mosaicism 47XXX/45X0, a Case Report

Pinto Renata Machado , Duarte Sabrina Sara Moreira , Cunha Damiana Miriam da Cruz e , Ribeiro Cristiano Luiz , Silva Claudio Carlos da , Cruz Aparecido Divino da , Cruz Alex Silva da

Background and Aims: Turner Syndrome (TS), 45X0, is the most common chromosomal pathology affecting females, occurring in 1:2500 to 1:5000 female infants. The typical phenotype includes short stature, gonadal dysgenesis leading to sexual infantilism, low-set ears, low rear hairlin, mamary hypertelorism, neck webbing, gothic palate, irregular rotation of the elbows, shield chest, shortening of the 4th metacarpal, low hairline, shortening of lower extremities, renal disorders a...

hrp0086p2-p502 | Fat Metabolism and Obesity P2 | ESPE2016

Metabolic Syndrome in Prepubertal Obese Children: Inclusion of the Triglyceride/Hdl Ratio as an Alternative Diagnostic Criterion

Boquete Carla , Jesica Baran , Yuseff Fernanda Alvarez , Suarez Martha , Fideleff Gabriel , Azaretzky Miriam , Aranguren Marcela , Fusero Mariela , Ruibal Gabriela , Fideleff Hugo , Boquete Hugo

Background: Although a large number of publications show a high prevalence of Metabolic Syndrome (MS) during childhood, to date, there is no uniform definition for evaluating this condition in children and adolescents. In the pediatric population, there are difficulties for characterizing this condition and the various criteria used might lead to underdiagnosis. In recent years, the triglycerides/HDL (TG/HDL) ratio has been proposed as a new marker.Objec...

hrp0086p1-p898 | Thyroid P1 | ESPE2016

Do Different Initial Doses of L-T4 within the Range of 10-15 mcg/kg/day Influence Neurodevelopment during the First Two Years of Life in Children with Congenital Hypothyroidism?

Esposito Andrea , Bravaccio Carmela , Bruzzese Dario , Cassio Alessandra , Gastaldi Roberto , Mussa Alessandro , Peroni Elena , Polizzi Miriam , Vigone Maria Cristina , Wasniewska Malgorzata Gabriela , Weber Giovanna , Salerno Mariacarolina

Background: The initial L-T4 dose currently recommended in the treatment of congenital hypothyroidism (CH) is 10–15 mcg/kg per day.Objective and hypotheses: We designed a multicenter randomized trial to evaluate the effects of different starting doses of L-T4 within the range 10–15 mcg/kg per day on neurocognitive development in children with CH.Method: Seventy-two children with CH diagnosed by neonatal screening were enr...

hrp0082p2-d1-365 | Fat Metabolism & Obesity | ESPE2014

Large-Born Infants Switch from an Adipose to a Lean and Insulin-Sensitive State with Low Concentrations of Circulating Myostatin and Follistatin

Sebastiani Giorgia , Cruz Miriam Perez , Silva Marta Diaz , Roig Maria Dolores Gomez , Bermejo Abel Lopez , Toda Lourdes Ibanez , De Zegher Francis

Background: Muscle is key to glucose metabolism. Myogenesis is completed in early infancy, partly under the inhibitory control of myostatin, a myokine whose actions can be influenced by follistatin. Early lowering of myostatin actions is thus a potential strategy to reduce the risk for later diabetes.Objective and hypotheses: We performed a first screening of whether such lowering is among the natural mechanisms whereby some human infants augment their l...