Endocrine Abstracts

Introduction: Pheochromocytomas are rare tumors arising from adrenomedullary chromaffin cells. Pheochromocytomas are a serious clinical condition and undiagnosed cases are associated with increased unexpected cardiovascular mortality.Case report: A female Caucasian patient aged 52-year-old was referred to the endocrine department of a public central hospital because of an incidental right adrenal mass first found 3 years before during the work out of non...

Introduction: Catecholamine secreting tumors are rare neoplasias. About 15% are paragangliomas. If untreated, they are almost invariably lethal. Surgery is the only curative therapy.Case report: A female caucasian patient aged 32 was evaluated in the endocrine department. She had a dramatic medical history: Fallot’s Tetralogy was diagnosed soon after birth but was not corrected. Only a Blalock-Taussing shunt was performed after three isquemic stroke...

Introduction: Fahr syndrome (FS) is a neuropsiquiatric condition due to progressive basal ganglia calcification. Although physiopathology is not completely understood, it may be secondary to infectious, metabolic and genetic diseases.Case report: A 65-year-old male Caucasian was referred to the outpatient endocrine department because of hypocalcaemia. No perioral paresthesia or tingling of the fingers and toes were noticed. He complained of longstanding ...

Introduction: Cushing syndrome (CS) result from inappropriate exposure to increased non regulated glucocorticoid levels. It remains challenging regarding diagnosis and management. Pituitary ACTH-secreting adenomas account for most of the cases if exogenous and paraneoplasic forms are excluded.Case report: A 45-year-old women was referred to the endocrine outpatient department because of obesity, muscular weakness, high blood pressure (HBP), diabetes ...

Introduction: Central and Peripheral Diabetes Insipidus are both rare conditions. Combined they may result in serious hypernatremia and water deficit that may pose a therapeutic challenge.Case report: MHBCR, a caucasian female aged 52, was admitted to the Endocrine Department because of serious hypernatremia. A previous diagnosis of pituitary failure and central diabetes insipidus was established 4 years before, after pituitary surgery for a non-secretin...

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by an increased predisposition to the development of tumors of the endocrine tissues, such as parathyroid glands, anterior pituitary, and duodenopancreatic neuroendocrine tumors. It is an autosomal dominant disorder due to germline mutations in the MEN-1 tumor suppressor gene. This gene encodes the menin protein, which is involved in cell growth and differentiation, and in sensing or repairing DNA damage. We present ...

Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, w...

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...