Endocrine Abstracts

Background: Newborn screening is the only systematic work-up of thyroid disorders in Slovakia with unambigously proven positivities. There is wide discussion regarding the screening of thyreopathies in specific risk groups such as pregnant women.Aims: To study the gynaecologist and endocrinologist co-operation in screening pregnant patients from region of Liptov and Orava for autoimmune thyroiditis.Subjects and methods: The partici...

Introduction: A form of ACTH-dependent Cushing syndrome is an ectopic production of ACTH. The aetiology can by benign lesion or a malignant non-pituitary tumor, which is more common. The prevalence of endogenous Cushing syndrome is 1 in 26 000. Ectopic ACTH secretion is responsible for 7–15% of the cases. Principal position of the ACTH-producing tumor is in lungs – a bronchial endocrine tumor and small cell lung cancer. Small peripheral bronchial carcinoids can easil...

Carney complex (CNC) is rare autosomal dominant disorder, which was firstly described as a combination of manifestation of myxomas, spotty skin pigmentation and endocrine overactivity in 1985. This condition affects many organs and varies in clinical manifestation. The presence of at least two clinical signs is considered as pathognomonic with regard to a sporadic form of CNC, and an evidence of at least one sign with simultaneous manifestation of CNC in any of first degree re...

Background: If the laboratory results are not compatible with the patient’s clinical symptoms, the presence of possible test interference should be considered. Despite the excellent quality of immunoassays, it is currently estimated that they may be susceptible to several types of interference that may lead to patient misdiagnosis.Case report: In our case report we present a 71-year-old woman with confirmation of macro-adrenocorticotropic hormone (m...

Background: Post-adrenalectomy persistent hyperkalemia, that lasts >3 months and needs to be treated, is a potentially serious, but not apprehensively investigated complication after surgical treatment in patients with aldosterone-producing adenomas (APA).Case report: A 53-year-old male presented type 2 diabetes mellitus and a 10-year history of resistant hypertension requiring multidrug treatment with antihypertensives of eight different classes. Pr...

Acromegaly is a rare disorder usually caused by a benign tumour of the pituitary gland. Long-term presence of elevated growth hormone (GH) and insulin like growth factor I (IGF-I) levels accompanying this disease is associated with complications such as heart failure, cerebrovascular disease, diabetes mellitus, sleep apnoea and arthropathy. Incidence of acromegaly is 3-5 patients per million per year. Klinefelter syndrome is ...

Combination of Turner syndrome (TS) and classical congenital adrenal hyperplasia (CAH) is rare worldwide. Incidence of CAH - autosomal recessive disorders characterized by enzyme defect of steroidogenic pathway, of which 90% ocuurs in the CYP21A2 gene coding 21-hydroxylase is 1:10000-16000. Incidencie of Turner syndrome is 1:2500 worldwide. Phenotypically, females with TS may present with a wide spectrum of clinical features. They may exhibit short stature, virilization, prema...