Endocrine Abstracts

Background: Familial partial lipodystrophy type 2 (Dunnigan syndrome and FPLD2) is a rare genetic disorder, associated with different metabolic abnormalities, especially insulin resistant diabetes mellitus, dyslipidaemia, hepatic steatosis, and cirrhosis, cardiovascular disease, and cardiomyopathy, kidney disease.Clinical case: A 20-year-old patient first presented with changed appearance due to abnormal subcutaneous fat tissue redistribution (lipodystro...

Water intake in central diabetes insipidus (CDI) usually falls in range of 3–20 l a day. Intake of more than 20 l is regarded as physiologically unnecessarily even in the absence of antidiuretic hormone. We describe a family with 8 members suffering from autosomal recessive form of CDI due to mutation C105Y (codon numeration is given for preprovasopressin) in AVP gene. In all family members disease had presented in neonatal period or early childhood. It is remarkable that...

MEN1 syndrome is an autosomal dominant inherited disease characterised by primary hyperparathyroidism in association with endocrine enteropancratic tumors and anterior pituitary adenomas. Tumours of the pituitary gland as the first manifestations of MEN1 are very rare in children.Clinical case report: A 13-year-old boy presented with clinical signs suggestive of Cushing’s syndrome. He had decreased growth rate, muscle weakness, headaches and truncal...

Objective: To evaluate the health-related quality of life (HRQoL) in children and adolescents with constitutional tall stature (CTS).Materials and methods: Sixty-two patients (20 males and 42 females) with CTS aged 9.3–16.4 years (12.9±2.4 years, mean±S.D.) were enrolled in this study. Sixty-eight normal subjects (24 males and 44 females) aged 9.8–16.2 years (13.1±2.1 years) served as controls. The evaluation of th...

The aim of this publication is to address an attention to possible misdiagnosis in patients with 17-alpha-hydroxylase deficiency.A 24 year old woman was admitted to our Centre with diagnosis of aldosteroma (aldosterone – 486 pmol/l (22–478), hypertension, hypokaliemia, adrenal mass (d–2.2 sm) defined by ultra sound). At the age of 15 years the patient was diagnosed with testicular feminisation as the cause of absent puberty (karyotype &#15...

Introduction: Despite recent developments in biochemical, radiological and molecular techniques, a preoperative diagnosis of parathyroid carcinoma (PC) remains a difficult task. The main challenge of all studies in this area is a small number of cases based on retrospective data. The search for new blood biomarkers associated with PC could be important for early diagnosis and prognosis. Dysregulated microRNA (miRNA) levels are involved in tumorigenesis and may serve as diagnos...

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing syndrome and in 25–55% of cases is caused by mutations in ARMC5 gene. A 37 y.o. female was referred to our center with a diagnosis of ACTH-independent Cushing syndrome. Laboratory testing confirmed endogenous hypercortisolism (urinary free cortisol 5063.5 nmol/24 h (60–413), midnight salivary cortisol 56.6 nmol/l (0.5–9.4), midnight serum cortisol 1427 nmol/l (46–...

Introduction: The genetic causes of development of multiple endocrine neoplasia type 1 (MEN-1) phenocopies remain largely unknown.Aim of the study: To evaluate the role of genes associated with familial primary hyperparathyroidism (PHPT) in the development of MEN-1 phenocopies with the combination of PHPT and pituitary adenomas (PA).Materials and methods: 20 patients (19 females and 1 male) were included in the study. All patients ...

Introduction: Hyperparathyroidism-jaw tumor (HPT-JT) syndrome is a rare autosomal-dominant disorder caused by mutations in CDC73 tumor suppressor gene. To date about 80 mutations in CDC73 have been described.Case reports: Four patients among a cohort of young patients (<40 y.o.) with primary hyperparathyroidism (PHPT) underwent next-generation sequencing (NGS) (Ion TorrentTM PGMTM, Thermo Fisher Scientific&#150...

Introduction: Several genetic syndromes are associated with familial pituitary adenomas. The penetrance of clinical manifestations of these syndromes is not ubiquitous and this might be the reason for the lack of detection of genetic mutations when only one or few genes are studied.Aim: Clinical characterisation and molecular genetic study of a panel with ten genes involved in formation of pituitary adenomas in familial setting.Mat...