hrp0089p3-p362 | Thyroid P3 | ESPE2018

Graves’ Disease in a Pediatric Population: Results from the Last 17 Years at a Pediatric Endocrinology Unit

Carvalho Fabia , Paredes Silvia , Miguel Gomes Maria , Martins Sofia , Marques Olinda , Antunes Ana

Introduction: Graves’ disease (GD), the main cause of hyperthyroidism in children, is caused by thyrotropin receptor stimulating autoantibodies (TRABs) that activate thyroid hormone synthesis, secretion and thyroid growth. Therapeutic options are anti-thyroid drugs (ATD), 131-I or thyroidectomy. This study reports the experience of a Tertiary Pediatric Endocrinology Unit.Methods: Review of GD patients diagnosed from January/2001 to October/2017. Res...

hrp0086p2-p589 | Perinatal Endocrinology P2 | ESPE2016

Severe Systemic Pseudohypoaldosteronism Type 1: 5 Years of Evolution

Miguel Gomes Maria , Baptista Vera , Martins Sofia , Marques Olinda , Antunes Ana

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare syndrome characterized by unresponsiveness or resistance to the action of aldosterone. It manifests with persistent salt loss, resulting in hyponatremia, hyperkalemia and metabolic acidosis. High levels of aldosterone and renin activity, confirms the diagnosis. When the inheritance pattern is autosomal recessive it expresses as a severe systemic disease. Often occurs in the neonatal period and presents with recurrent ...

hrp0097p1-344 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Neurobehavioural impairments in children with septo-optic dysplasia spectrum conditions: A systematic review

Mann Amy , Aghababaie Arameh , Kalitsi Jennifer , Martins Daniel , Paloyelis Yannis , R Kapoor Ritika

Background: Septo-optic dysplasia (SOD) is a rare condition diagnosed in children with two or more of the following: hypopituitarism, midline brain abnormalities, and optic nerve hypoplasia (ONH). Children with SOD experience varied visual impairment and endocrine dysfunction. Autistic-like behaviours have been reported, however the nature and prevalence of these neurobehavioural impairments remain to be fully understood. The present systematic review aimed to...

hrp0097p1-563 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Clinical and analytical presentation of central precocious puberty according to age: a 20-year retrospective study

Luísa de Carvalho Ana , Matilde Carvalho Rita , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Central Precocious Puberty (CPP) results from the premature activation of the hypothalamic-pituitary-gonadal axis. Is defined by the onset of secondary sexual characters before 8-years-old in girls and 9-years-old in boys. It’s associated with accelerated growth and advanced bone maturation and can lead to early epiphyseal fusion and reduced final height at adult age.Aims: To evaluate and compare the ...

hrp0097p2-95 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Short-term impact of therapy with GNRH analogues on the growth of female children with central precocious puberty: a retrospective study of the last 20 years

Luísa de Carvalho Ana , Carvalho Adriana , Martins Sofia , Antunes Ana , Miguel Gomes Maria

Introduction: Since the 1980s, long-acting gonadotropin-releasing hormone analogues (GnRHa) have been the standard treatment for central precocious puberty (CPP).Aims: To evaluate the short-term response (at 6 and 12 months) of treatment with GnRHa in female children diagnosed with CPP, regarding growth, bone maturation (Greulich and Pyle method), predicted adult height (PAH) and pubertal development (Tanner stages)....

hrp0086p1-p107 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mineral Status in Children and Adolescents with Klinefelter Syndrome

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Chiarelli Francesco , Manoni Cristina , Parpagnoli Maria , Verrotti Alberto , Lapi Elisabetta , Giglio Sabrina , Dosa Laura , de Martino Maurizio

Background: Klinefelter syndrome (KS) has long-term consequences on bone health. However, studies regarding bone status and metabolism in childhood and adolescence are very rare.Objective and hypotheses: The purpose of our study was to evaluate bone status and metabolism in a cohort of KS children and adolescents.Method: This cross-sectional study involves 40 (mean age 13.7±3.8 years) KS children and adolescents and 80 age-mat...

hrp0086p1-p130 | Bone & Mineral Metabolism P1 | ESPE2016

Triple X Syndrome: An Evaluation of Bone Mineral Status and Metabolism

Stagi Stefano , Scalini Perla , Di Tommaso Mariarosaria , Parpagnoli Maria , Paci Silvia , Masoni Fabrizio , Chiarelli Francesco , Verrotti Alberto , Guarducci Silvia , Giglio Sabrina , Romano Silvia , de Martino Maurizio

Background: However, no study has considered the effect of a supernumerary X chromosome on bone mineral status and bone metabolism.Objective and hypotheses: To evaluate bone mineral status and metabolism in a cohort of patients with nonmosaic triple X syndrome.Method: Nineteen girls (median age 10.9, range 7.7–15.9 years) with nonmosaic triple X syndrome were cross-sectionally studied and compared to an age- and body-size-matc...

hrp0082p2-d2-425 | Growth Hormone (1) | ESPE2014

Electronic Devices and Single-Dose Dispensing Systems GH are the Most Efficient and Less Loss of Drug

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Elizalde Miriam Miriam , Lorente-Blazquez Isabel , Minguez Cristina , Martinez-Martinez Carlos

Background: Several pharmaceutical formulations marketed GHRH, were being restricted in their choice occasions. Three display groups: single-dose, pre-filled pens/vials and electronic devices, self-injection systems. The choice may contribute to a greater or lesser adherence and a difference in the final cost of treatment (drug loss), attributable to the device itself or presentation. Presentations that require reconstitution device load, partial doses or stop in Pen contribut...

hrp0082p2-d3-447 | Growth Hormone (2) | ESPE2014

Efficacy, Adherence, and Cost Study According to Pathology and Treatment Devices in Children Treated with GHRH

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Elizalde Miriam Miriam , Lorente-Blazquez Isabel , Minguez Cristina , Martinez-Martinez Carlos

Background: Currently there are three distinct groups of GH devices: single dose (JM), preloaded pen/vial (VM) systems and electronic devices (DE) autoinjector systems. The choice could determine a greater or lesser adherence and thus influence the final treatment efficacy.Objective: Comparison of the therapeutic efficacy as measured by growth rate (VC), IGF1 as a function of various clinical variables, indicating GH and device used.<p class="abstext...

hrp0084p3-834 | Fat | ESPE2015

Liver Steatosis in Obese Children Courses with Enhanced Insulin Resistance and Dyslipidaemia, Which are Influenced by Gender, Puberty, Race and Body Fat Distribution

Martos-Moreno Gabriel A , Martinez-Villanueva Julian , Gonzalez-Leal Rocio , Sirvent Sara , Minguez Arturo , Martinez Guillermo , Hawkins Federico G , Argente Jesus

Background: Liver steatosis (LS) is diagnosed in obesity at very early ages, not exclusively related to overweight severity.Objective and hypotheses: To investigate the features of patients diagnosed with obesity associated LS (ultrasonography).Method: We retrospectively studied 88 obese (BMI>+2 SDS) children with LS (LS-OB) and 88 age, gender, race and puberty matched obese children without LS (no-LS-OB). BMI-SDS, body composi...