hrp0098p2-178 | Growth and Syndromes | ESPE2024

Co-Occurrence of DNET and Lymphoma in a patient with Noonan syndrome and mutation in PTPN11 gene

Rosa Pellicciari Caroline , Aparecida Siviero Miachon Adriana , Maria Spinola e Castro Angela , Maria Cappellano Andrea , Saba da Silva Nasjla , Augusto Vercillo Luisi Flavio , A. L. Jorge Alexander , C. Malaquias Alexsandra

Background: Noonan Syndrome (NS; OMIM 163950) is a common autosomal dominant disorder distinguished by facial dysmorphism, short stature, heart defects, chest deformities, and learning disabilities or mental retardation. NS stems from heterozygous germline causative variants in genes regulating the RAS/MAPK signaling pathway, including PTPN11, SOS1, RAF1, RIT1, KRAS, NRAS, BRAF, LZTR1, and SOS2. The condition exhibits considerable clinical variability and shar...

hrp0082p3-d1-925 | Puberty and Neuroendocrinology | ESPE2014

The Timing and Evolution of Puberty in a Sample of School-Aged Children in a Brazilian City

Feibelmann Taciana Carla Maia , da Silva Adriana Paula , Silva Daniela Cristina , de Resende Elisabete Aparecida Mantovani Rodrigues , Scatena Lucia Marina , de Fatima Borges Maria

Background: The beginning and evolution of physiological puberty may be occurring earlier, resulting in change in the age at which clinical investigation on precocious puberty must be conducted, as well as concerns regarding the possible deleterious effects of hormone exposure in a later stage of life.Objective and hypotheses: Assess age of beginning and evolution of puberty in boys and girls acknowledging the age of thelarche (T), menarche (M), period b...

hrp0089p3-p156 | Fat, Metabolism and Obesity P3 | ESPE2018

Neck Circumference and Lipid Profile in Adolescents with Overweight/Obesity

Arrais Ricardo Fernando , Nunes Amanda Caroline Pereira , Andrade Ana Suely de , Souza Angelica Luiza de Sales , Araujo Eduarda Pontes dos Santos , Soares Erika Aparecida de Araujo , Pimentel Jessica Bastos , Teixeira Suerda Isa Nascimento , Souza Thatyane Oliveira , Jaime Viviane Cassia Barrionuevo , Rezende Adriana Augusto de , Lima Severina Carla Vieira Cunha

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

hrp0086p2-p306 | Diabetes P2 | ESPE2016

Maturity-Onset Diabetes of the Young (MODY): Tracking and Clinical Follow-up

Bezerra Arthur Pires , Ramos Alberto Jose Santos , Braz Adriana Farrant

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes, with an autosomal dominant mode of inheritance and high penetrance. To this date, it is known 13 subtypes of MODY with different genetic etiologies. It is characterized by high incidence in the family, an early onset and primary defect in pancreatic β-cell function.Objective and hypotheses: The primary objective of this study is to identify patients with MODY an...

hrp0084p3-818 | Endocrine Oncology | ESPE2015

Endocrine Evaluation in Children and Adolescents Submitted to Allogeneic Bone Marrow Tranplantation

Kuperman Hilton , Manna Thais Della , Dichtchkenian Vae , Filho Hamilton Cabral de Menezes , Steinmetz Leandra , Cominato Louise , Fernandes Juliana Folloni , Mandelli Angela , Mantovani Luiz Fernando , Zanichelli Maria Aparecida , Colassanti Maria Dulce , Cristofani Lilian Maria , Filho Vicente Odone , Damiani Durval

Background: Paediatric bone marrow transplantation (BMT) can lead to endocrine dysfunctions due to common pre-procedure protocols involving chemo and radiotherapy.Objective and hypotheses: To evaluate the prevalence and time-of-onset of endocrine dysfunctions after BMT in children and adolescents.Method: A retrospective cohort-study design was performed. The inclusion criteria were: age range less than 18 years old at the time of t...

hrp0092p2-228 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Near Adult Height According to Genetic Target and Absence Of Craniofacial Bone Fibrous Dysplasia in a Girl With Mc Cune Albright Syndrome and Growth Hormone Excess: 12.6 Years Follow-up

Fernández Mentaberry Verónica , Riu Carmen , Oneto Adriana , Stivel Mirta

Background: Mc Cune Albright (MAS), is a rare genetic disease clinically defined by bone fibrous dysplasia (BFD), café au lait skin spots and at least one hyperfunction endocrinopathy. Growth Hormone (GH) excess has been described in 20% of patients usually accompanied by hyperprolactinemia (80%). As reported in literature GH hypersecretion is allways associated with craniofacial BFD, macrocephaly and is also accompanied by higher risk of systemic...

hrp0084p1-45 | Diabetes | ESPE2015

Immune/Inflammatory Profile in Children with Type 1 Diabetes Mellitus and Celiac Disease and/or Autoimmune Thyroiditis

Fattorusso Valentina , Galgani Mario , Mozzillo Enza , Santopaolo Marianna , Nugnes Rosa , Matarese Giuseppe , Franzese Adriana

Background: Most studies examined immune/inflammatory parameters in type 1 diabetes mellitus (T1D) showing discrepant results and not yield definitive conclusions. A study carried out by our group in 2013 compared meta-immunologic profiles of three groups: high-risk children, newly diagnosed children affected by T1D and controls.Objective and hypotheses: To compare metabolic profile in three groups: children affected by T1D and an additional autoimmune d...

hrp0084p2-383 | Fat | ESPE2015

Tryptophan Supplementation as Conjunctive Therapy to Life Style Changes in Obese Adolescents

Jaramillo Adriana , Calderon Caterina , Llobet Marina , Sole Laura , Suarez-Ortega Larisa , Lerin Carles , Ramon-Krauel Marta

Background: The correlation between obesity and depression is well established. Tryptophan (Trp) is an essential amino acid that acts as substrate for serotonin and melatonin biosynthesis, both know to play a role in satiety, anxiety, and depression. Furthermore, low plasma Trp levels have been associated with obesity.Objective: To investigate the effects of Trp supplementation as a conjunctive therapy to conventional life-style intervention on weight lo...

hrp0084p3-1018 | Growth | ESPE2015

Vitamin D in Short Children on GH Therapy: Effects of Vitamin D Status and Vitamin D Supplementation on Glucose Homeostasis

Dumitrescu Cristina , Caragheorgheopol Andra , Gherlan Iuliana , Brehar Andreea , Padure Adriana , Olaru Maria , Procopiuc Camelia

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

hrp0084p3-1172 | Thyroid | ESPE2015

Central Hypothyroidism and GH Deficiency in a Boy with Williams–Beuren Syndrome

Ciccone Sara , Fumarola Adriana , Bigoni Stefania , Bonifacci Valentina , Marrella Elisa Maria Gabriella , Buldrini Barbara , Host Cristina

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...