hrp0082p2-d3-437 | Growth Hormone (2) | ESPE2014

Long-Term Effects of GH Replacement Therapy on Thyroid Function in GH Deficiency Children

Esposito Andrea , Donato Iolanda Di , Rezzuto Martina , Alfano Sara , Moracas Cristina , Capalbo Donatella , Salerno Mariacarolina

Background: Several studies have investigated the effects of GH replacement therapy (GHRT) on thyroid function in children with GH deficiency (GHD) leading to contrasting results. Indeed, GHRT has been reported to affect the peripheral metabolism of thyroid hormones, to alter TSH secretion by pituitary and to unmask secondary hypothyroidism.Objective and hypotheses: To evaluate long-term effects of GHRT on thyroid function in a large cohort of GHD childr...

hrp0082p2-d3-501 | Perinatal and Neonatal Endocrinology | ESPE2014

Kabuki 47,XXY Syndrome: a Case Report

Pedicelli Stefania , Marini Romana , Ciccone Sara , Cambiaso Paola , Digilio Maria Cristina , Bizzarri Carla , Cappa Marco

Background: Klinefelter syndrome is the most common sex chromosome disorder (prevalence: 1/600 newborn males), characterized by at least one extra X chromosome. If the diagnosis is not made prenatally, the disorder can remain unknown until pubertal or adult age. Kabuki syndrome, instead, is a rare, dysmorphic syndrome (1:32 000 newborn) characterized by distinctive facial features, multiple anomalies, and mental retardation. About 50–80% of cases are due to de novo</e...

hrp0082p2-d2-527 | Pituitary (1) | ESPE2014

Adolescents with Chronic Endocrine Diseases: a Multidisciplinary Approach: the Experience of the Paediatric Clinic of Palermo

Cristina Maggio Maria , Riticella Rita , Salvo Giuseppe , Santangelo Giuseppe , Corsello Giovanni

Background: Adolescents affected by chronic diseases need a specific support and care, in a contest dedicated to them and not integrated with children. They often ask a specific attention to their asks, only partially secondary to their primary disease.Objective and hypotheses: The need of a support in communication of the diagnosis, in the adherence to a long-life or to a prolonged treatment and a long follow-up, with repeated blood samples, strumental ...

hrp0082p3-d3-863 | Growth (4) | ESPE2014

Costello Syndrome: What About GH Treatment?

Manolachie Adina , Rusu Cristina , Fadur Alina , Bodescu Ioana , Braha Elena , Mogos Voichita , Vulpoi Carmen

Background: Costello syndrome (CS) is a rare autosomal dominant genetic disease, first described in 1971, part of neuro-cardio-facio-cutaneous syndrome (with RAS pathway genes mutations of MAPKinaza-RASopathies), characterized by short stature, delayed mental development, joint hiperlaxity, papillomas, congenital heart defects and increased risk to develop benign or malignant solid tumors.Case: We present the case of a teenaged girl (15 years 7 months), ...

hrp0084p2-178 | Adrenals | ESPE2015

Genotypic Heterogeneity and Clinical Phenotype in Two Patients with Triple A Syndrome (AAAS)

Meloni Antonella , Casini Maria Rosaria , Mazzitti Roberta , Congia Riccardo , Rosatelli Maria Cristina , Bonomi Marco

Background: AAAS is an autosomal recessive disorder characterized by adrenal insufficiency, alacrimia, achalasia and neurological symptoms. The disease-causing AAAS gene encodes for the ALADIN nuclear pore protein.Case presentation: Case 1: A girl (born to unrelated parents) presented at age 3.9 years with fatigue and hyperpigmented skin. Clinical examination was normal, clumsy gait was noted. Endocrine studies confirmed adrenal insufficiency (F=9 mg/ml,...

hrp0084p2-363 | Fat | ESPE2015

Sleep and Weight Status at 4 Years in the Inma Asturias Cohort

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

Background: Epidemiologic studies have documented that sleep duration is associated with obesity risk children’s.Objectives: To investigate sleep duration of 4-year-old children (h/day) and to evaluate the association of sleep patterns with weight status at 4 years.Methods: 393 children from the INMA birth cohort of Asturias (Spain). We analysed sleep duration (h/day) during the night and afternoon nap, reported by their paren...

hrp0084p2-569 | Thyroid | ESPE2015

Parenting Stress Profile and Children Behaviour in Patients with Congenital Hypothyroidism

Maggio Maria Cristina , Piro Ettore , Alongi Alessandra , Riticella Rita , Salvo Giuseppe , Corsello Giovanni

Background: Hypothyroidism has been associated with cognitive and motor impairments, the degree to which mild hypothyroidism, or subclinical hypothyroidism impacts mood and cognitive functions and whether these symptoms respond to treatment, remains controversial. Furthermore, hypothyroidism is associated with an increased susceptibility to depression and reductions in health-related quality of life.Objective and hypotheses: Recent longitudinal studies s...

hrp0084p3-594 | Adrenals | ESPE2015

X-Linked Adrenoleucodystrophy Presenting as Addison’s Disease in Childhood: A Case Report

Meloni Antonella , Congia Mauro , Casini Maria Rosaria , Ibba Silvia , Bonomi Marco , Rosatelli Maria Cristina

Background: X-Linked Adrenoleucodystrophy (X-ALD) is a rare neurodegenerative disorder characterised by impaired peroxisomal beta-oxidation of very long chain fatty acids (VLCFA; ≧C22) which is reduced to about 30% of control levels. Consequently, there is an accumulation of VLCFA in plasma and tissues, including the white matter of the brain, the spinal cord and adrenal cortex. It is caused by mutation in the ABCD1 gene encoding a peroxisomal transmembrane protein (ALD...

hrp0084p3-607 | Adrenals | ESPE2015

Homozygosity for a Mutation in the CYP11B2 Gene and GH Deficiency in a Child with Severe Growth Delay

Maggio Maria Cristina , Vergara Beatrice , Salvo Caterina , Porcelli Paolo , Fabiano Carmelo , Corsello Giovanni

Background: Isolated hypoaldosteronism is an autosomal recessive inherited disorder of terminal aldosterone synthesis, leading to selective aldosterone deficiency. Two different biochemical forms of this disease have been described, called aldosterone synthase deficiency or corticosterone methyl oxydase, types 1 and 2. In type 1, there is no aldosterone synthase activity and the 18 hydroxycorticosterone (18 OHB) level is low, whereas in type 2, a residual activity of aldostero...

hrp0084p3-819 | Endocrine Oncology | ESPE2015

Early Endocrine Complications in Survivors of Childhood Malignant Tumours

Sanchez-Gonzalez Cristina , Andrades-Toledo Monica , Cardeno-Morales Alvaro , Torralbo-Carmona Alicia , Garcia-Garcia Emilio

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...