Endocrine Abstracts

Gitelman’s syndrome, rare (lifetime prevalence 1:5000) autosomal recessive tubulopathy, is caused by SLC12A3 gene mutation (encoding part of sodium-chloride channel and magnesium channel). Typical finding is low level of potassium and magnesium due to increased output, secondary hyperaldosteronism and hypocalciuria. In this case, we present 28 years old woman with 1 year nonspecific conditions similar to hyperventilation tetanic cramps: muscle fatigue, cluster headache, n...

Primary hyperparathyroidism is a common disorder which is curable by surgery. Exact localisation of parathyroid adenoma is essential for minimal invasive approach. The gold standard is sestamibi SPECT/CT nowadays - but fails in approximately 10% cases. In last 3 years some case report with 18F-choline PET/CT were published. We describe two cases with SPECT/CT invisible parathyroid adenoma.First case was 36y/o woman, with osteopenia diagnosed after pregna...

Introduction: Incidence of neuroendocrine neoplasms is still growing very rapidly. Many of these tumours are long term asymptomatic, definitive diagnose is confirmed in very advanced stage and make treatment difficult. Our case report illustrates diagnostic contribution of endoscopic adrenal biopsy.Our patient was a woman, 68 years old in time of diagnosis, with good quality of life. One year before she was undergone hysterectomy with bilateral adnexecto...

Pituitary adenomas are in the majority of cases diagnosed by magnetic resonance imaging (MRI). In some cases, especially in functional tumors, there are too small adenomas for MRI resolution and we need other diagnostic modality (including petrosal sinus catheterization for laterality). Usefulness of positron emission tomography (PET) with fluorodeoxyglucose was demonstrated in some case report. In this case, we present 36 y/o women with no other comorbidities, which came at f...

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: 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...

Background and aim: Up to now, there is paucity of studies concerning health status in adults with congenital adrenal hyperplasia (CAH). We aimed to examine a group of adult CAH patients from different Czech centers.Methods: Serum lipids, glucose, blood pressure and anhtropometrics were compared in 31 males and 71 females with CAH 21-hydroxylase deficiency and in healthy population from Czech post-MONICA study (1% random population sample).<p class="...

Acromegaly is usually diagnosed after several years of duration. The multimodal therapy – surgery, radiotherpy, pharmacotherapy – is necessary in the majority of patients. Register of sellar tumors (RESET) collecting data of patients from eight tertiary centers in the Czech and Slovak Republics since the year 2000 was established in 2008.Aim of analysis: Evaluation of diagnostics of acromegaly and effectiveness of its treatment in a daily pract...