Searchable abstracts of presentations at key conferences in endocrinology

ea0056p43 | Adrenal cortex (to include Cushing's) | ECE2018

Non-classical form of congenital adrenal hyperplasia in patients with bilateral incidentalomas – hormonal and genetic analysis

Przybylik-Mazurek Elwira , Kurzynska Anna , Skalniak Anna , Hubalewska-Dydejczyk Alicja

Incidentalomas of adrenal glands are found in approximately 0.4–4.4% of abdominal CT-scan examinations and some of them can be caused by congenital adrenal hyperplasia (CAH). Bilateral masses can be detected in 10–15% of cases. CAH is one of the most common autosomal recessively inherited disorders. Non-classical form of congenital adrenal hyperplasia (NCCAH), is the milder form of the 21-hydroxylase deficiency, with the estimated incidence of 1:1000 worldwide.<p...

ea0056p69 | Adrenal cortex (to include Cushing's) | ECE2018

Adrenocortical carcinoma in the experience of one clinical center

Kurzynska Anna , Przybylik-Mazurek Elwira , Motyka Marcin , Hubalewska-Dydejczyk Alicja

Adrenocortical carcinoma (ACC) is a rare neoplasm with poor prognosis. Patients can present signs of hormone excess: virilisation, Cusging’s syndrome or only enlarged abdominal mass. Incidentally ACC can be also detected in the ultrasonography. Some of ‘non-hypersecretory’ ACCs can produce non-bioactive hormones steroid precursors or not very big amount of them and sometimes patients present subclinical Cushing’s symptoms. Surgery and adjuvant radiotherapy ...

ea0041ep39 | Adrenal cortex (to include Cushing's) | ECE2016

The classical form of congenital adrenal hyperplasia-clinical characteristics and genetic analysis

Przybylik-Mazurek Elwira , Kurzynska Anna , Skalniak Anna , Piatkowski Jakub , Hubalewska-Dydejczyk Alicja

Classical form of congenital adrenal hyperplasia (CAH) is associated with the impairment of enzymes involved in process of adrenal steroidogenesis. More than 90% of CAH cases are connected with mutations in the 21-hydroxylase gene CYP21A2 in the HLA class III area on the short arm of chromosome 6p21.3. CAH is characterized by a strong correlation between the genotype and the phenotype. Mutations in the CYP21A2 gene can cause different degrees of loss of 21-hy...

ea0041ep280 | Clinical case reports - Pituitary/Adrenal | ECE2016

Pheochromocytoma – the rare reason of Cushing’s syndrome due to ectopic corticotropin secretion

Przybylik-Mazurek Elwira , Rzepka Ewelina , Kurzynska Anna , Hubalewska-Dydejczyk Alicja , Sowa-Staszczak Anna , Budzynski Andrzej , Bialas Magdalena , Chrzan Robert

Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) constitutes approximately 10% of Cushing’s syndrome (CS). In this group only in about 5% cases pheochromocytoma is the source of ACTH.We present two patients with EAS by pheochromocytoma.1. A 70 year-old woman with 3-months history of malaise, weakness, abdominal pain, loss of weight and appetite, hypertension and diabetes mellitus. One month ea...