ESPE Abstracts

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 ...

Introduction: The co-occurrence of Turner Syndrome (TS) and Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKHS) has been rarely described in literature. The resulting clinical picture includes congenital aplasia of the uterus and of the upper two-thirds of the vagina and ovarian dysgenesis.Case Report: We hereby report the case of a 14-year-old girl referred to our endocrine outpatient clinic for pubertal delay. Her previous medical history ...

Aims: The balance between hypo/hypercortisolism and hypo/hyperandrogenism is the main challenge in clinical management of patients with 21-hydroxylase deficiency (21OH-D). In adults, it has been established that both over and under-treatment might lead to the development cardiovascular risk factors. To date, only a few studies have addressed weather this risk begins in childhood. Aim of our study is to define the presence of early metabolic risk factors preval...

Introduction: Central Precocious Puberty (CPP) has recently been described in patients with isolated or syndromic neurodevelopmental disorders, with greater attention from the scientific community. We carried out this study to compare the main aspects of non-isolated and isolated forms of CPP.Methods: We conducted a retrospective monocentric study, collecting all treated cases of CPP from 1st January 2013 to 31 December ...

Aim: To evaluate the metabolic status in children with Turner syndrome (TS) depending on the Tanner stage (Pre-puberty and puberty).Methods: The total studied group consisted of 85 children with TS from 8 to 17 years, who were regularly followed-up in the University hospital (Minsk) and age matched 72 healthy controls. TS was diagnosed in patients with characteristic phenotypic signs according to the results of karyotypi...

Background: Septo-optic dysplasia (SOD) is characterized by two or more features of the triad: optic nerve (ON) hypoplasia, middle brain defects and pituitaty deficiencies. Pituitary Stalk Interruption Syndrome (PSIS) presents as a lack of a visible pituitary stalk and/ or no eutopic posterior lobe hypersignal in the shallow sella turcica. Both conditions usually result in hypopituitarism. The diagnosis is based on clinical signs and MRI findings; only small n...

Objectives: To evaluate prognostic factors of the growth hormone (GH) treatment effectiveness in children with Turner syndrome (TS).Methods: Retrospective observational study was conducted for 62 patients with TS (32 girls (52%) with 45,X karyotype, 8 (13%) with mosaic variant 45,X/46,XX, and 22 patients (35%) with structural abnormalities of X chromosome). All patients were treated with GH at a dose of 0.33 ...

Objectives: To evaluate the prevalence and characteristics of thyroid diseases in children with Turner syndrome (TS).Methods: This is a retrospective study, analyzing clinical data from medical records of 167 patients with TS from 3 to 18 years, who were regularly followed-up in the University hospital (Minsk). Depending on the karyotype, 4 groups of patients were identified: the first group with karyotype 45,X (n</e...

Thyroid carcinoma in pediatric patients usually manifests as an asymptomatic neck mass, with a reported incidence of cervical lymphadenopathy that ranges from 35-83%.Multifocal involvement of the thyroid gland is a well-recognized feature of papillary carcinoma. The reported frequency is about 20%, with wide variations depending on the extent of the sampling and reporting by the pathologistA 12 year old boy presented with t...

Background: Many organs of human body are attacked by autoimmune processes and countless number of genes are involved in their pathogenesis. Diabetes mellitus type 1 (T1DM) attaching pancreas is a common autoimmune disease in childhood. Among autoimmune thyroid diseases (AITD) we can distinguish less frequent in children population- Graves’ disease (GD). Thyroid stimulating hormone receptor (TSHR) gene encodes membrane protein responsible for thyroid metabolism. Interfero...