Endocrine Abstracts

Introduction: Osteopetrosis is a rare hereditary disease caused by defective osteoclast differentiation or function. Hematopoietic stem cell transplantation (HSCT) is a potentially curative treatment for some forms of osteopetrosis. HSCT is usually performed in infancy. Currently there is also experience of HSCT for osteopetrosis in adults1. In this clinical case we describe the follow-up of a patient treated with HSCT1 at the age of 28.<p class="abst...

Introduction: Multiple endocrine neoplasia type 1 (MEN 1) is a rare, autosomal dominant disease caused by mutations in the MEN1 gene. The syndrome predisposes an individual to the development of primary hyperparathyroidism (PHPT), gastroenteropancreatic neuroendocrine tumors (GEP-NETs), pituitary adenomas (PA), as well as other endocrine and non-endocrine tumors that usually manifest at a young age. If a patient with the MEN 1 phenotype does not carry m...

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: FIPA- is a syndrome which includes pituitary adenomas with any kind of secretion in two or more members in a family in the absence of MEN or Carney complex; it also includes isolated family somatotropin syndrome (IFS).Aim: Molecular genetic study of a gene panel in FIPA patient.Materials and methods: Study included 1 family (2 men, 24 and 58 years) with pituitary adenomas with homogeneous secretion type — somatot...

Introduction: Multiple endocrine neoplasia type 4 (MEN4) is a rare disorder, caused by inactivating mutations in CDKN1B gene that encodes p27kip1 cyclin-dependent kinase inhibitor. To date nine different germline CDKN1B mutations have been described in patients with clinical features of multiple endocrine neoplasia type 1 (MEN1) negative for MEN1 mutations (MEN1 phenocopies).Case report: We present a female 54 y.o. w...

The study analyses direct postoperative and long-term results of surgical treatment of ACTH-secreting pituitary adenomas in 158 patients, operated between 2004 and 2009. There were 143 (91%) female and 15 (9%) male. The mean age of the patients was 36 years, S.D. 10.7. In all patients the diagnosis of Cushing’s disease was confirmed by high dose dexamethasone suppression test. Preoperative hormonal evaluation: ACTH (0800 h), pg/ml (Me-78.5 (50.5 (25th perce...

IntroductionClinically functioning gonadotroph adenomas (FGA) are rare, especially in men. We present a case of a LH/FSH-secreting functioning gonadotroph macroadenoma in an elderly patient, which manifested with visual impairment and was accompanied by secondary erythrocytosis.Clinical caseA 62-y.o. male was admitted to our hospital with a 9-month history of visual impairment and a 5-year history of plethora...

Multiple endocrine neoplasia type 1(MEN1) is a hereditary condition caused by mutations in the MEN1 gene, which encodes menin protein. The syndrome predisposes to the development of tumors in both endocrine and non-endocrine systems. In patients with MEN1, pituitary adenomas (PA) occur in approximately 40% of all cases. If patient has MEN1 phenotype with no mutations in MEN1 gene, the condition is regarded as a phenocopy. The reason of several endocrine MEN1-...