hrp0086p2-p287 | Diabetes P2 | ESPE2016

Diabetic Ketoacidosis Risk Factors in the Initial Presentation of Type 1 Diabetes Mellitus in Children and Adolescents

Silva Silvia , Ferreira Lia , Aires Sofia , Freitas Joana , Oliveira Ma Joao , Cardoso Ma Helena , Borges Teresa

Background: Diabetic ketoacidosis (DKA) is the most serious acute complication of type 1 Diabetes mellitus (T1DM). It is important to know the factors associated with the development of DKA and elaborate preventive strategies to reduce their prevalence.Objective and hypotheses: To identify DKA predictive risk factors in the initial presentation of T1DM in children and adolescents.Method: We conducted a retrospective study, by analy...

hrp0086lbp1 | (1) | ESPE2016

46,XY DSD due to Isolated AMH Deficiency Resulting in Persistent Müllerian Duct Syndrome (PMDS) as a Consequence of a Single-Base Deletion in a SF1-Response Element of the AMH promoter

Valeri Clara , di Clemente Nathalie , Marshall Ian , Schteingart Helena , Josso Nathalie , Rey Rodolfo , Picard Jean-Yves

Background: Isolated persistence of Müllerian ducts in an otherwise normally virilised 46,XY newborn, a condition known as PMDS, is a disorder of sex development (DSD) due to a defect limited to AMH-dependent Müllerian duct regression.Objective and hypothesis: We report the case of a patient with PMDS and extremely low serum AMH in whom no mutations were detected in the AMH gene coding sequences. A single base deletion identified in th...

hrp0082p1-d3-130 | Fat Metabolism & Obesity (2) | ESPE2014

Features of Neuroendocrine Status in Children with Different Forms of Obesity

Solntsava Anzhalika , Zagrebaeva Olga , Mikhno Hanna , Dashkevich Helena , Sukalo Alexandr , Konchyts Katsiaryna

Background: The relationship of obesity and emotional disorders is confirmed in many studies. It is known that one of the substances responsible for the emotional status is dopamine.Objective: To study the features of neuroendocrine status in obese children.Methods: We examined 285 children (206 obese, age 14.56±2 years, BMI 32.86±5.1 kg/m2; 79 normal weight (control), 14.51±2.2 years (P=0.95), 19...

hrp0082p2-d2-381 | Fat Metabolism & Obesity (1) | ESPE2014

Neuroendocrine and Psychological Status in Obese Children

Solntsava Anzhalika , Zagrebaeva Olga , Yemelyantsava Tatsiana , Mikhno Hanna , Dashkevich Helena , Tkachova Yuliya

Background: Emotional disorders are serious complications in obese children. Dopamine is known to be one of the neurotransmitters, which is in charge of such conditions.Aim: To determine neuroendocrine and psychological status in obese children.Methods: We examined 296 children in the Endocrinological Department of University Hospital (Minsk); group 1 – 206 obese children (simple obesity: 14.35±2 years; BMI 30.8±2.5 ...

hrp0082p2-d1-585 | Thyroid | ESPE2014

Subclinical Hypothyroidism is Associated with Low IGF1 Levels and Decreased Growth Velocity

Bellini Helena , Maciel Lea , Custodio Rodrigo , Milani Soraia , Paula Mariana , Antonini Sonir , Liberatore Raphael , Martinelli Carlos

Background: Subclinical hypothyroidism (SH) is defined as normal tyrosine levels in the presence of TSH concentrations between 5 and 10 mU/ml. The impact of SH on IGF system and growth of infants remains unknown.Objective and hypotheses: To evaluate IGF1, IGFBP3 levels and growth velocity (GV) of infants with SH.Method: 98 children up to 36 months of age, recalled due to a TSH >5 mU/ml in the neonatal screening test, were divid...

hrp0082p2-d3-612 | Turner Syndrome | ESPE2014

Anti-Mullerian Hormone: a Marker of Premature Ovarian Insufficiency in Girls with Turner Syndrome

Mendes Catarina , Pinho Liliana , Borges Teresa , Oliveira Maria Joao , Cardoso Helena

Background: Turner syndrome (TS) patients typically exhibit short stature and gonadal dysgenesis with pubertal delay and infertility. Up to 30% of these girls will have spontaneous pubertal development, however only 2% achieve a spontaneous pregnancy. Biochemical markers reflecting the ovarian reserve in girls and adolescents with TS are therefore needed.Objective and hypotheses: Evaluation of the ovarian reserve in girls and adolescents with TS using se...

hrp0082p3-d2-888 | Perinatal and Neonatal Endocrinology (1) | ESPE2014

Neonatal Neurogenic Diabetes Insipidus: a Case Report

Alves Ines , Clemente Fatima , Castro-Correia Cintia , Pinto Helena , Guimaraes Hercilia , Fontoura Manuel

Background: Neurogenic diabetes insipidus (NDI) is extremely rare in the neonatal period. In most cases, it’s secondary to CNS injury. The clinical presentation in this group (particularly in preterm) is unspecific and a high degree of suspicion for the diagnosis is necessary.Objective and hypotheses: Diagnose NDI in a neonate with sodium and diuresis instability.Method: We present a case report.Results:...

hrp0082p3-d1-953 | Sex Development | ESPE2014

The Development of Gonadoblastoma in a 3-Year-Old Girl with 46,Xdel(Y)p11.3, Gonadal Dysgenesis and Associated Congenital Anomalies

Kolesinska Zofia , Rojek Aleksandra , Kedzia Helena , Blaszczynski Michal , Latos-Bielenska Anna , Kapczuk Karina , Niedziela Marek

Background: One of the crucial aspects of the management of disorders of sex development is the assessment of the risk of malignant transformation of a dysgenetic gonad.Objective and hypotheses: The PCR analysis of germ-cell risk factors as the presence of the TSPY gene may be helpful in decision making of an early gonadectomy.Results: We report a 46,Xdel(Y)p11.3 girl with gonadal dysgenesis, that was referred to the Depar...

hrp0084p2-290 | Diabetes | ESPE2015

C-Peptide Variation after the Diagnosis of Type 1 Diabetes in Paediatric Age

Correia Joana , Mendes Catarina , Pinheiro Marina , Preto Clara , Cardoso Helena , Oliveira Maria Joao , Borges Teresa

Background: C-peptide secretion is the most accurate measurement of residual β-cell function in type 1 diabetes (T1D) and even residual levels seem to positively correlate with a lower probability of complications.Objective and hypotheses: Identify key determinants to the evolution of the β pancreatic cell function, measured by fasting C-peptide (FCP).Method: Prospective study of patients diagnosed with T1D, with evaluati...

hrp0086p1-p117 | Bone & Mineral Metabolism P1 | ESPE2016

No Severe Hypercalcemia During a 12-Month High-Dose Vitamin D Intervention in Infants

Enlund-Cerullo Maria , Valkama Saara , Holmlund-Suila Elisa , Rosendahl Jenni , Hauta-alus Helena , Viljakainen Heli , Andersson Sture , Makitie Outi

Background: Vitamin D supplementation is widely recommended to infants, but the optimal dose remains unclear. Vitamin D regulates calcium metabolism, and overdosing and high intake may result in hypercalcemia.Objective and hypotheses: We measured serum pH-adjusted ionized calcium (Ca-ion/pH 7.40) concentrations at 6 and 12 months and 25-hydroxyvitamin D (S-25-OHD) at 12 months in order to evaluate the risk of hypercalcemia during vitamin D3 su...