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...

hrp0084p3-931 | GH & IGF | ESPE2015

5-Year Response to GH in Children with Noonan Syndrome and GH Deficiency: Our Experience and Review of the Literature

Meazza Cristina , Zavras Niki , Pilotta Alba , Gertosio Chiara , Pagani Sara , Tinelli Carmine , Bozzola Mauro

Background: Noonan syndrome (NS) is an autosomal dominant disorder characterized by specific features including short stature, distinctive facial dysmorphic features, congenital heart defects, hypertrophic cardiomyopathy, skeletal anomalies and webbing of the neck. Molecular screening has shown that the majority of individuals with NS have a mutation in the PTPN11 gene. Noonan syndrome children may show an impaired GH/IGF axis. Moreover, recombinant human GH (rhGH) has been sh...

hrp0084p3-1018 | Growth | ESPE2015

Vitamin D in Short Children on GH Therapy: Effects of Vitamin D Status and Vitamin D Supplementation on Glucose Homeostasis

Dumitrescu Cristina , Caragheorgheopol Andra , Gherlan Iuliana , Brehar Andreea , Padure Adriana , Olaru Maria , Procopiuc Camelia

Background: Glucose metabolism effects of vitamin D deficiency are debated. GH therapy is associated with increased insulin values and decreased insulin sensitivity.Objective and hypotheses: To investigate vitamin D status in short children treated with GH- to investigate if the known effects of GH therapy on glucose metabolism are modulated by vitamin D supplementation.Method: 41 children treated with GH for short stature where ev...

hrp0084p3-1172 | Thyroid | ESPE2015

Central Hypothyroidism and GH Deficiency in a Boy with Williams–Beuren Syndrome

Ciccone Sara , Fumarola Adriana , Bigoni Stefania , Bonifacci Valentina , Marrella Elisa Maria Gabriella , Buldrini Barbara , Host Cristina

Background: Thyroid disorders (subclinical hypothyroidism and structural abnormalities) are common in Williams syndrome (WS) patients.Objective and hypotheses: Central hypothyroidism and GH deficiency (GHD) in a WS patient are discussed.Method: Case report and literature review.Results: A 5-month-old male was admitted to our hospital because of growth failure since the 3rd month, mild dysmorphisms, micropenis...

hrp0084p3-1237 | Turner | ESPE2015

Clinical Features and Genetic Considerations of Turner Syndrome: A Review of Our Cases

Berrade Sara , Chueca Maria , Zarikian Sada , Mosquera Arantxa , Ulibarrena Noelia , Sola Alberto , Garcia Cristina , Oyarzabal Mirentxu

Background: Turner syndrome (TS) involves a partial or complete loss of an X chromosome. TS patients have an increased susceptibility to various disorders.Objective and hypotheses: To describe the clinical presentation, genotype and follow-up of TS patients controlled in the Pediatric endocrinology department of our hospital.Method: Retrospective study of patients diagnosed with TS at the ‘Navarra Hospital’ between 1980&#...

hrp0094p1-160 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Congenital Central Hypothyroidism (CeH) due to a new variant in IGSF1 gene: clinical case of 2 siblings

Abbate Marco , Vincenzi Gaia , Stancampiano Marianna , Cangiano Biagio , Bonomi Marco , Barera Graziano , Vigone Maria Cristina ,

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...

hrp0094p2-477 | Thyroid | ESPE2021

L-T4 absorption test in 14-year-old patient with severe refractory hypothyroidism after total thyroidectomy

Vincenzi Gaia , Di Stefano Marina , Abbate Marco , Tarantola Giulia , Barera Graziano , Vigone Maria Cristina

Hypothyroid patients post-thyroidectomy require 1.6-1.8 mg/kg/die of Levothyroxine (L-T4). A persistent TSH level above the upper limit despite a daily dose >1.9 mg/kg/die is defined as “refractory” hypothyroidism in adults. Malabsorption and “pseudo-malabsorption” need to be investigated in case of therapeutic failure. L-T4 absorption test (LT4AT) is useful in distinguishing these two conditions but it has only been described in adult age. We ...