Endocrine Abstracts

Introduction: Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, despite becoming evident only after puberty. The syndrome is characterized by a primary gonadal defect, which results in small testes due to hyalinization of the seminiferous tubules, low to low normal range of serum testosterone levels and elevated serum gonadotrophins. Paradoxically, a few cases have been described, presenting with hypogonadotropism.Case-repor...

Introduction: Glycemic variability (GV) is a major consideration when evaluating quality of glycemic control. Coefficient of glycemic variation (%CV) is the metric of choice to define GV. International consensus on continuous glucose monitoring (CGM) recommends a %CV <36. Additional studies suggest that low %CV minimize hypoglycemia events <54 mg/dl.Aims: The aim of this analysis is to examine the expected relationship between the coefficient of ...

Introduction: Xanthomas are defined as aggregates of lipid-laden histiocytes. They are generally present in superficial soft tissues such as skin and subcutis but can occasionally involve deep soft tissues. Xanthomas are classically associated with hyperlipidemia, that can be primary or secondary to numerous disorders such as diabetes. This case highlights an atypical manifestation of T2D.Case report: A 61-year-old women was referred to our endocrinology...

X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal metabolism, characterized by deficient beta-oxidation of saturated very long chain fatty acids (VLCFA). The accumulation of VLCFAs is associated with demyelination of the nervous system, and impairment of steroid hormone synthesis in the adrenal cortex and the testis. The range of phenotypic expression is wide and dynamic. The three presentations most commonly seen are the childhood cerebral forms, a...

Introduction: Continuous subcutaneous insulin infusion (CSII) represents a treatment option that helps patients with type 1 diabetes (PwT1D) to achieve better glycemic control, reduces hypoglycemia and improves quality of life. In Portugal, the National Health System (SNS) affords CSII treatment to PwT1D, according to certain criteria. Over the years, the number of patients treated with CSII devices supported by SNS has grown exponentially. We analyzed these patient’s pro...

Introduction: Classic congenital adrenal hyperplasias (CAH) are mostly diagnosed in the first months/years of life and require a lifetime follow-up.Case report: A 33-year-old Caucasian man was admitted twice in the previous year to the emergency department; the first episode due to an acute tonsillitis, the second episode due to a lower respiratory tract infection, both associated with hyponatremia (125 mmol/l). Common causes of hyponatremia were exclude...

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 ...