hrp0095p2-274 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Congenital hypogonadotropic hypogonadism caused by a novel mutation of GnRHR gene: a case report

Cristina Maggio Maria , Venezia Renato , Maria Di Blasio Anna , Corsello Giovanni

Hypogonadotropic hypogonadism is characterized by low levels of gonadotropins and delayed or absent sexual development. Most of the patients reach the diagnosis in late adolescence or in adulthood. A timely, appropriate diagnosis implicates a better clinical outcome and treatment timing. We describe the clinical case of a 15-year-old girl with primary amenorrhea. Stature and weight were in accordance with mid parental height; Tanner stage: PH2 B1. FSH, LH, oestradiol showed pr...

hrp0092p1-95 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The role of Physical Activity on Postural Stability and Fitness Characteristics in Pediatric Patients with GH Deficiency

Brusa Jessica , Maggio Maria Cristina , Bellafiore Marianna , Corsello Giovanni , Palma Antonio , Messina Giuseppe

Purpose: Patients with growth hormone deficiency (GHD) show low fitness levels before GH treatment is started. Muscular strength, flexibility and postural stability are related to health and quality of life. Since it is widely recognized that physical activity increases GH secretion and GH could ameliorate fitness, if a high adherence to treatment is documented (1), the purpose of this study is to investigate any difference on posturographic parameters and mus...

hrp0092p1-192 | Fat, Metabolism and Obesity (1) | ESPE2019

Changes in Objectively Measured Sleep Quality After an Integral Intervention in Patients with Abdominal Obesity

Azcona Cristina , Catalán Ana , Morell Lydia , Ojeda Ana , Chueca María , Marti Amelia

Aim: to study sleep quality, using accelerometry in children and adolescents with abdominal obesity after a multidisciplinary intervention.Patients, Material and Methods: we included 122 children and adolescents, range age: 7 to 16 years old, diagnosed with abdominal obesity (waist circumference > p90) who participated in an 8-week intervention program to lose weight, with a 2-year follow-up period. Participants were...

hrp0092p1-202 | Fat, Metabolism and Obesity (1) | ESPE2019

Visceral Adiposity Index as a Marker of Metabolic Risk in Survivors of Paediatric Hematopoietic Stem Cell Transplantation After Chemotherapy-Only Conditioning

Cima Luminita-Nicoleta , Nedelea Lavinia , Soare Iulia , Barbu Carmen Gabriela , Zaharia Cristina , Colita Anca , Fica Simona

Background: Hematopoietic stem cell transplantation (HSCT) recipients exhibit excess adiposity that may result in an increased metabolic risk. Studies have shown that BMI is a poor predictor of body fatness in pediatric HSCT survivors population where diminished lean mass has been documented. The visceral adiposity index (VAI) has recently been proposed as a predictor of cardio-metabolic risk in both adults and children. However, the predictive value of this i...

hrp0092p1-392 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Do Children and Adolescents with Idiopathic short Stature show Postural Alterations? Possible Influence of SHOX Haploinsufficiency in a Pilot Study

Maggio Maria Cristina , Messina Giuseppe , Brusa Jessica , Bellafiore Marianna , Corsello Giovanni , Palma Antonio

Purpose: Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may af...

hrp0092p2-160 | GH and IGFs | ESPE2019

Metabolic Outcome in Adolescents with Growth Hormone Deficiency During Transition Phase

Improda Nicola , Moracas Cristina , Paolo Ciccarelli Gian , Capalbo Donatella , Salerno Mariacarolina

Background: It is well known that GH deficiency (GHD) in adulthood is associated with detrimental cardiovascular (CV) effects. Although data are controversial, adolescents with childhood-onset GHD (COGHD) and reconfirmed GHD may have increased metabolic risk after GH treatment withdrawal at final height (FH).Aim: Aim of our study is to compare growth response and metabolic profile in idiopathic COGHD adolescents with rec...

hrp0092p3-120 | Fat, Metabolism and Obesity | ESPE2019

Toward a Simple Marker of Hepato-Visceral Adiposity and Insulin Resistance:The Z-Score Change from Weight-at-Birth to BMI-in-Childhood

Malpique Rita , de Zegher Francis , Garcia-Beltran Cristina , Ibáñez Lourdes

Insulin resistance and hepato-visceral (central) fat excess are thought to contribute to an earlier timing of adrenarche/pubarche and puberty/menarche; this earlier timing in turn relates often to a mismatch between pre- and postnatal weight gain, which can be estimated by calculating the Z-score change from birth weight (BW) to body mass index (BMI) in childhood. We tested the hypothesis that this calculation may serve as a proxy of insulin resistance and hepato-visceral adip...

hrp0089p1-p064 | Diabetes & Insulin P1 | ESPE2018

Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism

Maggio Maria Cristina , Barbetti Fabrizio , Vitaliti Marcello , Ragusa Saveria Sabrina , Vitaliti Giuliana , Corsello Giovanni

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these ...

hrp0089p3-p108 | Diabetes & Insulin P3 | ESPE2018

Psychosocial Risks, Comorbidities and Health Events During the Follow-up of Children and Adolescents with Type 1 Diabetes

Temboury Ma Carmen , Villamor Raquel , Hernandez Ma Belen , Lapena Sara , Lopez Cristina

Background: Psychosocial factors and health events are important for patients with chronic diseases such type 1 diabetes (TD1).Objective and hypotheses: The aim was to explore the psychosocial factors, health events and comorbidity found at diagnosis and during the follow up of children and adolescents with type 1 diabetes. Also to analyze the association between socioeconomic status and glycaemic control.Method: Medical charts of ...

hrp0089p2-p161 | Fat, Metabolism and Obesity P2 | ESPE2018

Metabolic Alterations and Weight Status in Children at 8 Years: A Prospective Cohort Study

Riano-Galan Isolina , Fernandez-Somoano Ana , Rodriguez-Dehli Cristina , Venta Obaya Rafael , Tardon Adonina

Background: Prevalence of childhood obesity (OB) represents a major public health concern, given the tracking of body weight from childhood to adult age and obesity-related morbidity.Objective: To describe prevalence of overweight (OW) and OB in children at 8 years and investigate relationship with metabolic alterations (lipid profile and insulin resistance).Methods: 485 pregnant mothers recruited between 2004-2007 and 409 children...