hrp0097p2-103 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Clitoromegaly as a manifestation of neurofibromatosis type 1

Faviero de Vasconcellos Natália , Reis Krämmer Bárbara , da Costa Rodrigues Ticiana , Antônio Czepielewski Mauro , Guaragna Filho Guilherme , Cristina Pedroso de Paula Leila

Background: Clitoromegaly usually is a sign of virilization, and should lead to prompt evaluation in order to allow adequate treatment. Neurofibromatosis (NF) is a syndrome characterized by pigmentary changes, development of benign tumors of peripheral nerve and increased risk of other malignant tumors.Clinical Case: A five year old female patient was referred to the pediatric clinic of Hospital de Clínicas de Por...

hrp0082p2-d2-524 | Pituitary (1) | ESPE2014

Pituitary Stalk Interruption Syndrome: a Sequential Manner to Gain Pituitary Hormone Deficiencies with Still Unknown Molecular Basis

Jerez Elena , Echeverria Gabriela , Munoz-Calvo Teresa , Pozo-Roman Jesus , Martos-Moreno Gabriel , Argente Jesus

Background: Pituitary stalk interruption syndrome (PSIS) is characterized by the absence of the pituitary stalk, pituitary hypoplasia and an ectopic posterior pituitary.Objective: We aimed to retrospectively analyze the clinical, auxological, biochemical, and radiological findings in Spanish patients with PSIS.Patients and results: Of 27 patients, 25% were female and 75% male. Perinatal features, auxological and endocrine study at ...

hrp0095p1-599 | Thyroid | ESPE2022

Twin pregnancy with a hydatiform mole and coexisting liveborn infant, with maternal hyperthyroidism and neonatal hypothyroidism

Cecchi Griselda , Rampi Gabriela , Berger Malena , Forrester Andrea

Background: A twin pregnancy with a coexisting complete hydatiform mole and a healthy fetus is rare, with an incidence of 1 in 22.000-100.000 pregnancies. Associated with this condition are potencially serious maternal and fetal complications.Case Report: A 32 year old pregnant woman presented with clinical features of hyperthyroidism, confirmed by laboratory. An ultrasound scan revealed a complete hydatiform mole (CHM) ...

hrp0089p3-p155 | Fat, Metabolism and Obesity P3 | ESPE2018

Effect of Three-Month Diet and Physical Activity on Adipokines and Inflammatory Status in Children with Metabolic syndrome

Stroescu Ramona , Marginean Otilia , Bizerea Teofana , Gafencu Mihai , Doros Gabriela

The prevalence of metabolic syndrome (MetS) in young population continues to rise. Obesity is a chronic inflammatory disorder in which leptin, adiponectin and C reactive protein (CRP) play an important role. This study aimed to determine whether these adipokines are significant markers in defining MetS in pediatric population and to assess the effect of hypocaloric diet and physical activity on serum concentrations of adiponectine, leptin, and high sensitivity CRP (hs-CRP).</p...

hrp0082p2-d3-491 | Endocrine Oncology | ESPE2014

Autoimunne Thyroiditis in Type 1 Diabetes Mellitus Pediatric Population

Gomes Clara , Andrade Joana , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Increased prevalence of autoimmune thyroid disease (ATD) in patients with type 1 diabetes mellitus (T1DM) has been extensively described. Since 1996, screening for thyroid disease has been implemented in children and adolescents with T1DM and is performed at least annually.Objective and hypotheses: The aim of this study is to determine the natural history and incidence of ATD in T1DM pediatric patients and the relationship between positive an...

hrp0082p3-d3-735 | Diabetes (2) | ESPE2014

Metabolic Control in a Pediatric Population with Type 1 Diabetes Mellitus

Andrade Joana , Gomes Clara , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in childhood and adolescence. Poor metabolic control is associated with numerous and onerous consequences. HbA1c levels are important in the assessment and monitoring of metabolic control in T1DM. Therefore, it is essential to know the causes of its variability.Objective and hypotheses: Determine the impact of age and time of disease in the value of HbA1c in children...

hrp0082p3-d3-753 | Diabetes (4) | ESPE2014

Type 1 Diabetes Mellitus in Pediatric Population: Chronic Complications and Associated Diseases

Andrade Joana , Gomes Clara , Luis Assuncao , Laranjo Gabriela , Campos Joana

Background: Type 1 diabetes mellitus (T1DM) is the second most frequent chronic disease in childhood and adolescence. Chronic hyperglycemia is responsible for numerous long term complications, not only microvascular (retinopathy, nephropathy and neuropathy), but also macrovascular (ischemic cardiopathy, cerebrovascular disease and peripheral vascular disease). On the other hand, the T1DM immune modification is responsible for an increased incidence of other autoimmune diseases...

hrp0084p3-949 | GH &amp; IGF | ESPE2015

Plexiform Neurofibroma and Demielinisant Lesions in a Patient with GH Deficiency Treated with rGH

Cima Luminita-Nicoleta , Albu Alice , Fica Simona , Barbu Carmen Gabriela

Case report: A 13-year old boy treated with rGH for short stature due to isolated GH deficiency was submitted in our clinic in June 2014 for regular follow-up. From his medical history we note that he was diagnosed with GH deficiency in 2009 (−4.5 S.D.) and started treatment with rGH 0.035 mg/kgc per day since February 2009. The physical exam showed H=149.9 cm (−0.74 S.D.), 39 kg, Tanner P3G3 and a subcutaneous left paravertebral tumou...

hrp0097p2-99 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Three cases of Leydig cell tumor with different clinical presentation

Hidalgo Coronado Lorena , Rampi Gabriela , Brunetto Oscar , Hernandez Claudia

Leydig cell tumors(LCTs) are rare testicular tumors, representing 1-3% of them. They are usually unilateral but can be bilateral up to 3%. Its incidence is bimodal, peaking at 5-10 years (20%) and 25-35 year (80%). Malignant transformation has not been clearly proven in children, whereas in adults they are malignant in 10% of cases. The main clinical manifestation is a palpable, painless testicular mass associated in a variable percentage with endocrinological manifestations t...

hrp0089p2-p259 | Growth &amp; Syndromes P2 | ESPE2018

Unusual Case of Combination of Beckwith-Wiedemann Syndrome and SHOX Gene Deficiency

Cassano Gilda , Osimani Sara , Pajno Roberta , Pitea Marco , Partenope Cristina , Russo Silvia , Pozzobon Gabriella

Background: Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder involving a predisposition to tumor development, etiologically connected with genetic/epigenetic dysregulation. The main features of BWS include omphalocele, macroglossia and macrosomia; however there is significant clinical heterogeneity. SHOX mutation is a frequent cause of short stature with high penetrance, but extremely variable clinical expression. The mean adult height is -2.2 SDS. The presence of m...