hrp0082p2-d3-444 | Growth Hormone (2) | ESPE2014

Baseline Body Composition of Children with Short Stature Diagnosed for GH Deficiency

Matusik Pawel , Barylak Aleksandra , Cholewka Patrycja , Klesiewicz Marta , Klos Karolina , Stasiulewicz Martyna , Cetera Maria , Malecka-Tendera Ewa

Background: Severe GH deficiency (GHD) is associated with significant body composition abnormalities. However there is no data assessing initial body composition parameters in the children with partial GHD.Objective and hypotheses: Study objective was initial body composition assessment in the short stature children diagnosed for GHD.Method: 54 consecutively diagnosed for GHD short statured children (40 boys) in the mean age 10.83&...

hrp0082p2-d3-497 | Endocrine Oncology | ESPE2014

Gonadal Tumor in 46,XY and 45,X/46,XY Female Patients: One Clinical Center Experience

Gawlik Aneta , Antosz Aleksandra , Kudela Grzegorz , Drosdzol-Cop Agnieszka , Zachurzok Agnieszka , Matusik Pawel , Kaminska Halla , Koszutski Tomasz , Malecka-Tendera Ewa

Background: The incidence of gonadal tumor development varies significantly between subsets of patients with disorder of sex development (DSD). In some female patients with Y chromosome too early gonadectomy is perceived as overtreatment.Objective and hypotheses: The aim of the study was to analyze the gonadal tumor incidence in DSD female patients with 45,X/46,XY or 46,XY.Method: 15 patients, managed at single institution between ...

hrp0097p2-217 | Adrenals and HPA Axis | ESPE2023

Primary hypoaldosteronism due to aldosterone synthase deficiency in a small for gestational age born infant

Janchevska Aleksandra , Tasic Velibor , Antonievska Simona , Bujarovska Ivana , Iliev Blagorodna , Daniloski Darko , Jordanova Olivera , Gucev Zoran , Plaseska-Karanfilska Dijana

Key words: Primary hypoaldosteronism, aldosterone synthase deficiency, salt-wasting, failure to thrive, CYP11B2 gene mutationIntroduction: Aldosterone synthase deficiency is a rare autosomal recessive inherited disorder. The patients carry mutations in the CYP11B2 gene. It is primary hypoaldosteronism presented in early childhood with electrolyte abnormalities (hyponatremia, hyperkalemia, and metabolic ...

hrp0098p2-203 | Multisystem Endocrine Disorders | ESPE2024

Hyperthyroidism and type 1 diabetes mellitus in a girl with down syndrome

Sapundzija Felina , Sandeva Dragana , Beadini Narcize , Nonkulovski Danilo , Naunova Timovska Silvana , Jordanova Olivera , Abazi Nora , Janchevska Aleksandra

Introduction: Autoimmune endocrinopathies are associated with Down syndrome (DS), especially in pubertal female patients. Coexistence of hyperthyroidism and insulin-dependent diabetes mellitus (IDDM) is very rare in patients with DS. But, the possibility of their occurrence emphasizes the importance of annual screening.Patient and methods: An 11-year-old girl with Trisomy 21 (DS), BMI=20,7 kg/m2 and BMI z scor...

hrp0095p2-175 | Growth and Syndromes | ESPE2022

Central Hypothyroidism as a manifestation of X linked IGSF1 Deficiency Syndrome: a case report

Righi Beatrice , Rosato Simonetta , Trimarchi Gabriele , Cattini Umberto , De Fanti Alessandro , Garavelli Livia , Elisabeth Street Maria , Sartori Chiara

Introduction: The IGSF1 gene deficiency syndrome (IDS) is an X-linked disorder involving hormonal disfunctions. We report a case of Central Hypothyroidism (CH) due to a Xq26.1q26.2 microdeletion including the IGSF1 gene.Case: this boy was referred to our clinic for thyroid dysfunction. He was born at term by caesarean section due to maternal uterine myoma. Pregnancy was normal, parents were non consangu...

hrp0084p2-222 | Bone | ESPE2015

Bone Density, HIV Infection and Antiretroviral Treatment: A 10-Year Follow-Up in Young Patients

Mora Stefano , Maruca Katia , Ambrosi Alessandro , Puzzovio Maria , Erba Paola , Nannini Pilar , Benincaso Annarita , Capelli Silvia , Giacomet Vania

Background: The success of highly active antiretroviral therapy (HAART) has dramatically increased life expectancy for human immunodeficiency virus (HIV)-positive patients, revealing a range of chronic problems associated with HIV. Among others, low bone mineral density (BMD) has been described in HIV-infected youths. Little is currently known about the changes of BMD over time in these patients.Objective and hypotheses: The aim of the study was to asses...

hrp0084lbp-1260 | Late Breaking Posters | ESPE2015

Decreased AMY1 Gene Copy Number is Associated with Increased Obesity Risk in a Population of Caucasian School Children

Marcovecchio M Loredana , Florio Rosalba , Verginelli Fabio , De Lellis Laura , Verzilli Delfina , Chiarelli Francesco , Cama Alessandro , Mohn Angelika

Background: Genome-wide association studies have identified more than 60 SNPs associated with BMI. Additional genetic variants, such as copy number variations (CNV), have also been implicated in the pathogenesis of obesity. Recently, the highly polymorphic CNV in the salivary amylase (AMY1) gene has been associated with obesity risk in adults.Objective and hypothesis: To assess the potential association between AMY1 copy number and BMI ...

hrp0094fc3.6 | Growth Disorders | ESPE2021

Growth patterns in children with Mucopolysaccharidosis type I-Hurler after haematopoietic stem cell transplantation: comparison with untreated patients

Chiaraluce Sofia , Molinari Silvia , Di Marco Santo , Gasperini Serena , Biondi Andrea , Rovelli Attilio , Parini Rossella , Cattoni Alessandro ,

Background: Mucopolysaccharidosis I Hurler (MPS-IH is an inborn error of metabolism arising from the defective activity of alpha-L-iduronidase, an enzyme involved in the degradation of glycosaminoglycans (GAGs). As a result, the pathological lysosomal storage of GAGs in several tissues leads to multi-systemic complications, such as hepatosplenomegaly, progressive central nervous system deterioration, skeletal dysplasia and faltering growth, commonly resulting ...

hrp0097p1-517 | Growth and Syndromes | ESPE2023

Bridging the gap between short stature and metabolic alterations in children born small for gestational age: an exploratory study

Rodari Giulia , Citterio Valeria , Collini Valentina , Risio Alessandro , Profka Eriselda , Giacchetti Federico , Arosio Maura , Mantovani Giovanna , Giavoli Claudia

Introduction: Children born small for gestational age (SGA) represent a heterogeneous population, displaying different phenotypes for both growth and metabolic status. Low birth length and/or weight increases the risks for not only growth impairment but also for metabolic derangements (cardiovascular disease, hypertension and type 2 diabetes), the latter with an even amplified risk in children with rapid postnatal weight gain. Variability in metabolic paramete...

hrp0098fc10.3 | Multisystem Endocrine Disorders | ESPE2024

Endocrine disorders in a wide cohort of children and adolescents affected by Neurofibromatosis type 1

Collini Valentina , Risio Alessandro , Grilli Federico , Rodari Giulia , Citterio Valeria , Giacchetti Federico , Profka Eriselda , Mantovani Giovanna , Giavoli Claudia

Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant disorder affecting 1:3000 individuals. Endocrine comorbidities have been reported in 1%-3% of all NF1 patients. In children, central precocious puberty (CPP) is the most frequent endocrinopathy (3%). Other endocrinological problems associated with this condition are short stature, growth hormone (GH) deficiency/excess, calcium-phosphate metabolism derangement and decreased bone mineral density...