ESPE Abstracts

Introduction: Autoimmune polyendocrinopathy type 1 (APECED) is an autosomal recessive disease caused by loss of function mutations of autoimmune regulatory (AIRE) gene. Characteristically, early onset ectodermal dysplasia, mucocutaneus candidiasis is followed by hypoparathyroidism and primary adrenal insufficiency usually within the first two decades. Although clinical features may be variable, recently, it is suggested that population characteristics and natu...

Introduction: DICER1 syndrome is a pleotropic, autosomal dominant familial genetic tumor predisposition syndrome. DICER1 somatic + germ-line mutations (double hit hypothesis); cystic nephroma; pleuropulmonerblastoma, ovarian sex cord-stromal tumors, multinodular goitre (MNG) are associated with many conditions such as differentiated thyroid cancer, pituitary blastoma. We presented three cases, two of whom were siblings, who had been consulted because of no...

Gender uncertainty is stressful condition for children and their families. Gender assignment in children with disorder of sex development (DSD) is considered as a medical emergency. Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexual, therapeutic and/or surgical intervention options, views and desires of patients and families, situation of social-cultural factors, the psycholo...

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

Background: Thyroid nodules are quite common in the adult population (13%)but are relatively rarely diagnosed in childhood (0.2-5%).There is a significantly higher risk of malignancy of paediatric thyroid nodules than that in adult patients. The authors of this publication present the observations of the occurrence, diagnosis, and treatment of patients with thyroid nodules in the Department of Pediatric Endocrinology and Diabetology, Medical University...

The association of TIDM and SLE is rather rare, but in the event of occurrence can complicate the course of the other. Genetic predisposition, autoimmunity and viral infections are the main etiopathological factors implicated in the pathogenesis of type 1 diabetes mellitus and an association between TIDM and Celiac disease (CD) has a high incidence. This is probably due the human leukocyte antigen (HLA) DR3- DQ2 and DR4-DQ8 that is common to both the diseases.<p class="abs...

A 12-year 8-month-old girl visited our hospital due to short stature. Her height was 130.7 cm (−3.6SD), and her weight was 42 kg (−0.24 SD). She had cubitus valgus and breast budding (Tanner stage II) without a webbed neck, congenital heart anomaly, exophthalmos, or goiter. Laboratory results in serum were as follows: Ca 10.3 mg/dL, LH11.7 mIU/mL, FSH37.7 mIU/mL, estrogen 18.6 pg/mL, IGF-1 304 ng/mL, and bone age 12 years and 0 months. All other laboratory findings...

Introduction: Thyroid nodules are uncommon in the paediatric population, present in 5% of children but 35% of adults. However, up to 25% of paediatric nodules are malignant, compared to 5% in adults. It can be challenging to differentiate malignant nodularity from benign clinically, particularly in the presence of a thyroid disorder. We present two contrasting cases of adolescent girls with solitary thyroid nodules.Case 1: A 13-year-old girl was referred...

Background: Vitamin D insufficiency is more frequent than expected also in Western Europe, however the relieve of a ‘health’ child with rickets is uncommon in Caucasians.Objective and hypotheses: Explain clinical severity by a genetic background.Method: We describe the clinical case of a 2.5-year-old girl with skeletal deformities. She was 86.5 cm (10° Cent), 12.5 kg (3–10° Cent); PH1B1. She showed typical ...

Background: Thyroid nodules are less common in childhood but it has higher risk of malignancy. In this study, we aimed to evaluate children and adolescents with thyroid nodules, clinically, radiologically and histopathologically to determine etiologic distrubution.Method: Seventy-one patients (46 females) with the mean age of 10.41±5.03 (0.04–21) years with thyroid nodules were involved in this study. Patients were evaluated by their complaints...