Endocrine Abstracts

We describe case of 29-year woman with no concomitant illneses in her history and with negative family history in sense of adrenal or cancer disease.She came first in February 2012 for secondary hypomenorrhea lasting for 3 months, hirsutism and worsening of acne. Laboratory examination reveals markedly elevated free testosterone (9.6 nmol/l) and slightly elevated morning cortisol (687.4 nmol/l) with almost no suppresion in low dose dexamethasone suppresi...

Introduction: Adrenal incidentaloma is a problem with increasing importance. There are CT-density and washout criteria for distinction between adrenal adenoma and other tumours, there are well established protocol of screening for malignancy and/or hormonal dysfunction. But there remains small portion of atypical adenoma where detailed diagnostic is needed. One relatively new option is endosonography-guided fine-needle aspiration biopsy.Aim: To assess va...

Introduction: Benefit of general screening for concomitant autoimunne diseases in patients with chronic autoimunne thyroiditis (AIT) is serious problem from medical, even from economic point of view. Some authors advice for screening, some advert to mass occurence of AIT and warn about huge expenses. Situation vary from one country (region) to another.Aim: To assess incidence of celiac disease in patients with chronic autoimunne thyroiditis and find any ...

Background and aims: Medullary thyroid carcinoma (MTC) occurs as a sporadic or less commonly as an inherited form which comprises multiple endocrine neoplasia (MEN) type 2A and 2B and familial MTC. Whereas over 95% of patients with MEN2 syndrome have a germline missense mutation in the RET proto-oncogene, the detection rate of germline mutations in FMTC patients is lower as well as the detection rate of somatic mutations in sporadic MTC tumor tissues. In this context, s...

Introduction: Isolated maternal hypothyroxinemia leads to higher prevalence of children autism, attention-deficit/hyperactivity disorder and mild cognitive deficiency. Frequency of hypothyroxinemia among women with gestational diabetes mellitus (GDM) is unclear and routine screening is not well established.Objective: Find prevalence of maternal isolated hypothyroxinemia in women with GDM and assess relations with necessity of insulinotherapy.<p class...

Medullary Thyroid Carcinoma (MTC) can be associated with Hirschsprung’s disease (HSCR). Mutations in exon 10 of the RET proto-oncogene were found in patients with co-occurrence of HSCR and MTC. The aim of the study was to screen the MTC risk exons in patients with HSCR. The genetic analysis comprised 73 HSCR patients (53 males, 20 females) who were operated on and followed-up during 2001-2006. The cohort consisted of 48 patients with classical HSCR, 11 with long colonic a...

Aim: To investigate total homocysteine (Hcy), cysteine (Cys), glutathione (GSH), lipid and steroid sulfate levels in women with polycystic ovary syndrome (PCOS).Methods: The blood levels of Hcy, Cys, GSH (determined by HPLC), total and HDL-cholesterol, insulin (IRMA),DHEA and DHEAS, cortisol, pregnenolone, 17-hydroxy-pregnenolone and pregnenolone-sulphate (all RIA) were examined in 44 women with PCOS (age 24+/-7yrs) and 12 healthy controls (34+/-5yrs) in...

Aim: To evaluate the effects of cyproteronacetate/ethinylestradiol (Diane 35) on weight, lipid and androgen levels in women with PCOS.Methods: 19 PCOS women, age 24.3 +/- 4.3 yrs, weight (W) 66.3 +/- 13.5 kg. Blood samples in the early follicular phase of menstrual cycle for cholesterol (C), HDL cholesterol (HDL-C), triglycerides (TG), testosterone (T), androstenedione (A), DHEAS and SHBG and again after 7 +/- 3.8 months of treatment with Diane 35.<p...

Introduction: Hereditary medullary thyroid carcinoma (MTC) is associated with only one major cause – germline mutations in the RET proto-oncogene. The most of tested families with MTC is related to specific RET mutation, however, very small number of families left unresolved without the causing inherited mutation. New techniques of next generation sequencing give hope in finding the new candidate genes that could be involved in the pathogenesis of these ...

Polycystic ovary syndrome (PCOS) is considered as a risk factor for diabetes type 2 (DM2), it is often associated with obesity, β-cell dysfunction or insulin resistance. Genetic factors underlying the association of PCOS with DM2 is unknown. Recent human genetic studies have revealed that transcription factor 7-like (TCF7L2) polymorphisms are associated with DM2 through modulation of β-cell function.The aim of this study was to test if <...