Endocrine Abstracts

The complete or partial absence of one of the two X chromosomes in a female with characteristic phenotype appearance entitles to Turner syndrome (TS) diagnosis. Monosomy of X chromosome (45,X) is prevalent, however some patients are mosaic and carry one or more additional cell lines, also with Y chromosome. The karyotype variability reflects the wide clinical spectrum of the syndrome. The prevalence of spontaneous puberty is 6% for 45,X and more than 50% for other karyotypes. ...

Background: Turner syndrome (TS) predisposes to autoimmune diseases such as thyroiditis, coeliac disease, diabetes mellitus type 1, inflammatory bowel diseases, alopecia and vitiligo. The prevalence of autoimmunity increases with age and more than one autoimmune disease can coexist together in one patient. The possible factors leading increased autoimmunity in TS are not clear.Aim: To compare the panel of autoimmunity markers in 37 TS girls (40.5% with 4...

Women with T1DM experience high prevalence of hyperandrogenic disorders. Study aim was to examine whether they are present at adolescents and related to metabolic control and type of insulin therapy. Clinical characteristics, hormonal profile and ovarian volume were studied in 49 adolescent girls with T1DM. PCOS criteria were fulfilled in 11 (22.5%). Although girls with poor metabolic control had higher T (P=0.02) and 17-OH progesterone (P=0.03), frequency of PCO...

Gonadotropin levels in all Turner syndrome (TS) patients present a diphasic pattern: highest in early childhood, declining at 6–10 years of age, and then increasing again. Here, we have investigated whether karyotype or FSH&LH can be used as indicators of spontaneous puberty in TS. From a consecutive group of 139 TS girls treated at one clinical center (1996–2015) the clinical & biochemical data were finally analyzed in 110 TS patients (1268 visits). The stud...

Calcitonin assessment in thyroid diseases is recommended when medullary thyroid cancer (MTC) is suspected in fine needle biopsy, as well as in ‘suspicious for a follicular neoplasm’ class, especially oxyphilic type, in patients with germinal RET proto-oncogene mutation and in nondiagnostic biopsy when no surgical treatment is planned. This assessment is also suggested before any planned thyroid surgery to exclude MTC. Beyond diagnosis confirmation it is also suggeste...

The aim of the study was to evaluate hormonal profile in diabetic adolescent girls with menstrual disorders and compare them to regularly menstruating diabetic and healthy girls.We studied 54 adolescent girls with T1DM treated with intensive and continuous insulin therapy in the chronological age of 15.9±1.3 years and gynecological age of 33.7±16.7 months with the mean HbA1c for the last year 7.4±1.5%. In 18 (33%) girls menstrual disturban...

Multi kinase inhibitors (MKIs) constitute a new therapeutic option in advanced RAI-refractory differentiated thyroid cancer (DTC) and medullary thyroid carcinoma (MTC). To date four different MKIs demonstrated a beneficial effect on progression free survival in DTC (sorafenib, lenvatinib) and MTC (vandetanib and cabozantinib). However, the treatment related toxicity, which potentially may limit their clinical use and lead to a negative impact on the quality of life, have been ...

Background: Although recombinant human TSH (rhTSH) is widely used to aid radioiodine treatment of differentiated thyroid cancer (DTC), however, there are data on its effectivness in children and adolescents with DTC.The aim of our retrospective study was to evaluate effectiveness and safety of rhTSH aided radioiodine treatment in DTC patients 18 years of age or younger.Material and Methods: Fifty five children/adolescents (median a...

Type II germ cell tumors are predictable complications in patients with disorder of sex development (DSD) and with Y chromosome present. The risk of tumor development varies significantly between subsets of DSD and in some cases early gonadectomy is perceived as overtreatment.The aim of the study was to analyze the gonadal tumor incidence in 45,X/46,XY and 46,XY patients who were reared as female and managed at single institution between 1997 and 2013.</...

GLUT8 is a class 3 sugar transport facilitator, and transports glucose with high affinity (km~2 mM). GLUT8 mRNA is expressed in brain, heart, skeletal muscle, adipose tissue, adrenal gland, liver and at particulary high levels in testis. In testis, the GLUT8 protein is located in an intracellular compartment of spermatocytes, spermatids and mature spermatozoa. GLUT8 contains an N-terminal dileucine sorting signal retaining the transporter in an intracellular compartment. So fa...