Searchable abstracts of presentations at key conferences in endocrinology

ea0037ep1233 | Clinical Cases–Pituitary/Adrenal | ECE2015

Acute renal failure in a patient with hypopituitarism and rhabdomyolysis

Kaluzna Malgorzata , Piatek Katarzyna , Ziemnicka Katarzyna , Sowinski Jerzy , Ruchala Marek

Introduction: Hyponatremia can be a life-threatening emergency. Severe hyponatremia may occur in patients with hypopituitarism and secondary adrenal insufficiency and hypothyroidism. The acute decompensation of pituitary insufficiency can also lead to accompanying rhabdomyolysis and acute renal failure (ARF).Case report: A 67-year-old woman complaining of general fatigue, dizziness, nausea, feeling cold and numbness of limbs and tongue was admitted to th...

ea0037ep1316 | Clinical Cases–Thyroid/Other | ECE2015

Ectopic ACTH syndrome: diagnostic and therapeutic challenge

Piatek Katarzyna , Kaluzna Malgorzata , Ziemnicka Katarzyna , Ruchala Marek

Introduction: Rapid deterioration of health condition in patient with diagnosed neoplastic disease, especially metastatic one, requires consideration of cancer progression. However other rare severe complications can occur. In 0.6–0.7% patients with medullary thyroid cancer (MTC) the ectopic ACTH syndrome (EAS) is observed. Hereby, we present a case EAS in patient suffered from MTC.Case report: A 37-year-old man was admitted to the Department of Int...

ea0056p934 | Female Reproduction | ECE2018

The inflammatory markers and central obesity in policystic ovary syndrome

Kaluzna Malgorzata , Janicki Adam , Czlapka-Matyasik Magdalena , Wachowiak-Ochmanska Katarzyna , Moczko Jerzy , Ziemnicka Katarzyna , Ruchala Marek

The waist-to-height ratio (WHtR) has recently gained attention as an anthropometric index showing the highest predictive value for cardiometabolic risk in PCOS and healthy women. Central adiposity is the key driving force behind a constellation of inflammatation linked to insulin resistance, metabolic syndrome and cardiovascular diseases. PCOS is also considered to be linked to chronic inflammatory processes. Platelet count ratio/mean platelet volume (PLT/MPV), lymphocyte&#150...

ea0081p710 | Reproductive and Developmental Endocrinology | ECE2022

Age- and body mass index-adjusted association between insulin sensitivity and risk factors for cardiovascular disease in polycystic ovary syndrome

Kałużna Małgorzata , Krauze Tomasz , Kompf Pola , Ziemnicka Katarzyna , Andrzej Wykretowicz , Ruchala Marek , Guzik Przemyslaw

Introduction: Impaired insulin sensitivity accompanies polycystic ovary syndrome (PCOS). Women with PCOS are usually at risk of premature cardiovascular disease, which increases with age and body weight. We studied the link between insulin sensitivity measured by the Matsuda Insulin Sensitivity Index (MISI) adjusted to body mass index (BMI) and age in otherwise healthy PCOS women.Methods: 250 adult women with PCOS of reproductive age (18-43 years old) un...

ea0049ep1074 | Pituitary - Clinical | ECE2017

Body composition and bone mineral density in male patients with isolated hypogonadotropic hypogonadism

Kałużna Małgorzata , Człapka-Matyasik Magdalena , Przeorska Dorota , Ziemnicka Katarzyna , Ruchała Marek

Isolated hypogonadotropic hypogonadism (IHH) is known to decrease bone mineral density due to lack of pubertal surge of gonadotropins and deficiency of sex steroid hormone. Gonadal steroid hormones imbalance affects body composition. Nineteen Caucasian men, 22–48 year old (mean±S.D. 33±7.65) diagnosed with IHH (8 normosmic, 11 anosmic or hyposmic) were enrolled into the study. 14 patients were on hormone replacement therapy (HRT), 5 patients were ...

ea0049ep1450 | Thyroid (non-cancer) | ECE2017

Concomitant occurrence of papillary thyroid cancer (PTC) in a branchial cleft cyst (BCC) and an occult multifocal PTC in the thyroid gland

Szczepanek-Parulska Ewelina , Borowczyk Martyna , Kluk Alina , Dworacki Grzegorz , Orłowski Marcin , Ziemnicka Katarzyna , Ruchała Marek

Introduction: BCC is a congenital epithelial neck cyst, which occurs due to failure of the second branchial cleft to obliterate during embryogenesis. Development of PTC inside the cyst is extremely rare.Case description: A 29-year-old female presented to the endocrinology clinic with a gradually increasing painless mass in the right lateral region of the neck, identified on ultrasound examination as an anechoic cyst of size 2×2×5 cm with a smoo...

ea0041ep606 | Endocrine tumours and neoplasia | ECE2016

Novel mutations p.V220E and c.30G>T in menin gene are associated with hereditary predisposition to multiple endocrine neoplasia type 1

Ziemnicka Katarzyna , Budny Bartlomiej , Gut Pawel , Hernik Aleksandra , Leitgeber-Dominiczak Olena , Siudzinski Marcin , Gryczynska Maria , Janicki Adam , Ruchala Marek

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant condition characterized by varying combinations of endocrine tumors and commonly accompanying hyperplasia within the parathyroid gland, anterior pituitary and gastrointestinal tract. Heterozygous germline mutation of the tumor suppressor gene MEN1 is the most common cause of the disease. Molecular genetic testing of menin gene, in which mutation is known to cause MEN1 syndrome, detects pathogenic...

ea0035p326 | Clinical case reports Thyroid/Others | ECE2014

From hemoptysis to diagnosis of congenital hypothyroidism: a diagnostic pitfall

Szkudlarek Malgorzata , Szczepanek-Parulska Ewelina , Ziemnicka Katarzyna , Piatek Katarzyna , Golab Monika , Kaluzny Jaroslaw , Czepczynski Rafal , Ruchala Marek

Introduction: Congenital hypothyroidism (CH) is the most common congenital endocrine disorder. It occurs in Europe with an incidence of 1:3000–1:4000.Thyroid dysgenesis – agenesis, hypoplasia or ectopy – is responsible for 80–90% of CH cases. An ectopic thyroid gland is an uncommon inborn anomaly and is typically located along the thyroglossal duct. To date only few cases of CH due to lingual thyroid diagnosed in adulthood were reported in the literature.</...

ea0070aep573 | Pituitary and Neuroendocrinology | ECE2020

The SAGIT instrument: Potential utility in treatment decision-making in acromegaly

Sawicka-Gutaj Nadia , Ziółkowska Paulina , Ziemnicka Katarzyna , Szczepanek-Parulska Ewelina , Czarnywojtek Agata , Ruchała Marek

Introduction: The SAGIT instrument was developed for clinicians to assess the status and evolution of the disease in patients with acromegaly. Currently, it is investigated in the validation phase. The aim of our study was to evaluate the potential utility of SAGIT instrument for distinguishing acromegaly clinical stages and its usefulness in treatment decision-making at a single Polish endocrine center.Patients and Methods: Medical charts of adults with...

ea0056oc12.2 | Novel aspects of puberty development and Cushing's disease | ECE2018

Oligogenicity in Kallmann syndrome - an underestimated phenomenon?

Kaluzna Malgorzata , Budny Bartlomiej , Rabijewski Michal , Debicki Szymon , Trofimiuk-Muldner Malgorzata , Dubiel Agnieszka , Ruchala Marek , Ziemnicka Katarzyna

Isolated hypogonadotropic hypogonadism (IHH) is caused by impaired gonadoliberin (GnRH) gene regulation, synthesis or secretion of GnRH. Genetic factors of more than 50% of the IHH are still unknown. One the most common types of IHH is the Kallmann syndrome (KS) associated with anosmia or hyposmia. In view of technological progress and new possibilities for detecting changes in human genome a comprehensive targeted analysis using next-generation sequencing (NGS) was carried ou...