Endocrine Abstracts

Craniopharyngiomas are rare solid or mixed solid-cystic tumours. Although benign histologically, these tumours frequently shorten life and should be considered low-grade malignancies.We present the case of a 12-year-old boy diagnosed in 2008, at age 5, with a suprasellar tumour of 22/21/20 mm with mixed solid and cystic areas. The tumour was operated twice by left transfrontal approach in 2008 and right transfrontal approach in 2009. The pathology exam r...

Introduction: There is a lack of epidemiological data on the distribution of haptoglobin and C677T of MTHFR polymorphisms in Caucasians type 2 diabetic patients. The contribution of these two genetic factors to hyperhomocysteinemia and hypercysteinemia can be useful to prevent cardiovascular events and to reduce public health costs. The aim of this study is to evaluate the contribution of haptoglobin and C677T polymorphisms for hyperhomocysteinemia and hypercysteinemia in Port...

Introduction: Giant prolactinomas are rare tumours, representing 2–3% of all prolactin (PRL)-secreting tumours. Their definition is restricted to pituitary adenomas with a diameter ≥4 or ≥2 cm of suprasellar extension, very high PRL concentrations (≥1000 ng/ml) and no concomitant GH or ACTH secretion. They are more common in young to middle-aged men. Endocrine symptoms are often present for a long period of time, but most times the diagnosis is made when...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is a rare genetically heterogeneous disorder, with 3 variants described. An inactivating mutation in the calcium sensor receptor (CASR) gene causes the subtype 1, which represents 65% of the cases.It is charaterised by hypercalcaemia and hypocalciuria with normal or elevated PTH. FHH is generally assymptomatic and treatment is not needed. Differential diagnosis with primary hyperparathyroidism (PH...

Introduction: Takotsubo cardiomyopathy or stress-induced cardiomyopathy (SICM) is a rare condition. Even more rare cases associated with glucocorticoid deficiency have been described.Case report: AAGM, a 74-year-old man was admitted to the inpatient Endocrine Department because of suspected panhypopituitarism. Six months before the diagnosis of SICM was established after an acute coronary syndrome episode with no lesions found in coronary angiography and...

Introduction: Von Hippel–Lindau disease (VHLD) is an autosomal dominant neoplastic syndrome characterized by the development of multiple cancers and cists, including pheochromocytoma and islet cell tumors. Screening is mandatory for family members of index cases.Case report: A 23-year-old male Caucasian was referred to Endocrine Department because of the recent genetic diagnosis of VHLD during familiar screening. The mutation c.482G>A(p.Arg161GI...

Introduction: Hyponatremia is defined as a serum sodium level of <135 mEq/l and it is considered severe when the serum level is below 125 mEq/l. In patients with diabetes insipidus treated with desmopressin, it is usually secondary to desmopressin overmedication.Case report: A 79-year-old man, with a past history of post traumatic central diabetes insipidus treated with desmopressin. The patient had multiple admissions to the hospital due to hyponatr...

Introduction: The adrenal ganglioneuroma are rare, benign and well differentiated tumors that arise from neural crest tissue. Most patients with adrenal ganglioneuroma are asymptomatic, and most of these are non-secreting tumors. They are usually found incidentally on abdominal imaging study for another reason.Case: A 53-year-old female, with a history of hypertension diagnosed at age 30, dyslipidaemia, depressive disorder and hysterectomy for uterine pr...

Introduction: Polycystic ovary syndrome (PCOS) affects 5–8% of reproductive-age women. The morbidity related to PCOS may include insulin-resistance, type 2 diabetes mellitus (T2DM), obesity, hypertension, cardiovascular disease and infertility. We aimed to evaluate the clinico-biochemical characteristics of PCOS women and establish its relationship with fertility treatment outcomes.Methods: We reviewed clinical records of PCOS women (Rotterdam crite...

Background: Studies show relationship between serum uric acid (SUA) and such diseases as type 2 diabetes (T2DM), hypertension (HT) and atherosclerotic cardiovascular disease (ASCVD). There is relationship both in hyperuricemia (HU), and high–normal values of SUA. Significance of this association is unknown; there are controversial data concerning HU role in patients with T2DM/CVD. The aim of the study was to assess SUA in T2DM patients with ASCVD.<...