Endocrine Abstracts

BackgroundDUOXA2 mutations in patients with congenital hypothyroidism (CH) was first described in 2008 as rare cause of CH. mRNA of DUOXA2 is expressed predominantly in thyroid and less in salivary glands. Human DUOXA2 gene is located on 15q21.1 and inherited in an autosomal recessive pattern. In most cases DUOXA2 gene mutations were described in patients with thyroid dishormonogenesis. Last investigations conferred <e...

Objective: To assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 - with Kallmann syndrome (KS), 8 – with normosmic isolated h...

Background: Nowadays, single nucleotide polymorphisms in genes KISS1, KISS1R, MKRN3, DLK1 have been described as the leading cause of precocious hypothalamic-pituitary axis activation in children. Genetic testing in patients with hereditary forms of precocious puberty (PP) can expand our knowledge in underlying molecular mechanisms of the disease. The diagnosis of genetic bases is necessary for genetic counselling.Aim: To access clinical charact...

IntroductionAmiodarone is a drug commonly used for the treatment of refractory atrial or ventricular arrhythmias. In 20% of patients, amiodarone may cause subclinical or clinically overt hypothyroidism or hyperthyroidism. The high iodine exposure caused by amiodarone treatment interferes with thyroid autoregulation. Two underlying mechanisms are considered to be involved in the pathogenesis of amiodarone-induced thyrotoxicosis (AIT). AIT1 is more common ...

Transient neonatal diabetes mellitus (TNDM) occurs in 50-60% of all cases of neonatal diabetes mellitus (NDM). The most common cause of TNDM (70%) is almost invariably associated with defect in chromosome 6 and mutations in the KCNJ11, ABCC8, INS, NHF1B etc. genes. TNDM is caused by mutations in the GATA6 gene in rare cases. This gene encodes a transcription factor that is important for the development of the hematopoietic, cardiac and gastrointestinal systems.<p ...

Coexistence of different types of brain tumors is a very rare condition. We present a clinical case of PRL-secreting adenoma and germ cell tumor coexistence in 14-year-old adolescent. The patient was admitted to our Center with complaints of headache with nausea episodes, left-sided ptosis. Visual acuity was: visus OD=1.0; visus OS=0.6 Cyl -0.5 ax 70=1.0. Neuroimaging revealed supra-para(D,S) sellar mass 39×32×21 mm. Laboratory data revealed hypothyroidism, hypocorti...