ESPE Abstracts

Background: 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes, ranging from ambiguous genitalia at birth to patients with a completely male or female phenotype. Turner syndrome stigmata and associated anomalies could be found in these patients.Objective and hypotheses: To evaluate clinical presenting symptom and follow-up data of 30 patients with 45,X/46,XY karyotype.Method: Thirty patients with 45,X/46,XY mosa...

Background: Hypothyroidism is frequently associated with muscular disorders and sometimes with moderately elevated levels of muscle enzymes. On the other hand, neuromuscular manifestations are rarely the only symptoms/signs present. Kocher–Debré–Semelaigne syndrome is a myopathy of hypothyroidism in childhood characterized by muscular hypertrophy. Rhabdomyolysis due to hypothyroidism is very rare. A very high creatinine kinase level in the range seen with inflam...

Background: Klippel–Feil syndrome (KFS) is characterized by congenital fusion of cervical vertebrae and has a prevalence of 1:50 000. The phenotypic expression is variable, sometimes presenting with extraskeletal symptoms.Case report: A girl was referred at the cronological age (CA) of 10.3 years with a suspected diagnosis of Turner syndrome, due to the presence of webbed neck and progressive deceleration of growth velocity. The girl, born in Russia...

Background: Hyperthyroidism is considered to be rare in children; it’s clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of patients diagnosed with hyperthyroidism.Results: 8 cases were identified between 2006 and 2013: 6F/2M, the patient&...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, the interferon induced helicase domain 1 (IFIH1) gene, the TSH receptor (TSH-R) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

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...

Background: The thyroid disorders in children and adolescents are varied. They are dominated by frequent malignant tumour lesions and goitres represented by Graves’ disease and Hashimoto’s thyroiditis in adolescence. They are characterized by several clinical forms.Objective and hypotheses: To study the clinical and aetiological characteristics of thyroid disease in children and adolescents.Method: This is a retrospective...

Background: Most experts agree that subclinical hypothyroidism (SH) represents early, mild thyroid failure, however there are controversies about the evolution of SH over time.Objective and hypotheses: The aim of the study was to analyse the dynamics of thyroid dysfunction in children initially referred as patients with SH.Method: During the period January 2010 – January 2015, 258 unselected consecutive SH patients (140 girls)...

Background: Simple goitre (SG) and autoimmune thyroid disease (AITD) are the two most common causes of goiter in children.Objective and hypotheses: The prevalence of thyroid dysfunction, AITD, and SG at the time of goiter diagnosis was investigated. The natural course of SG was studied and factors related to the development of AITD and/or thyroid dysfunction were analysed.Method: A retrospective review of 1,225 patients (1071 femal...