Searchable abstracts of presentations at key conferences in endocrinology

ea0063ep123 | Reproductive Endocrinology | ECE2019

Klinefelter syndrome and hypogonadotropic hypogonadism: an unusual presentation

Matos Tania , Costa Cristiana , do Vale Sonia

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...

ea0081p325 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Association between the coefficient of glycemic variation and time in range, below and above range in continuous monitoring glucose systems in type 1 diabetes

Gomes da Costa Cristiana , Matos Tania , Vale Sonia

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 ...

ea0081p629 | Diabetes, Obesity, Metabolism and Nutrition | ECE2022

Deep soft tissue masses as a manifestation of type 2 diabetes

da Costa Cristiana Gomes , Jacome Morgado Francisca , Vale Sonia

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...

ea0063p864 | Adrenal and Neuroendocrine Tumours 3 | ECE2019

X-linked adrenoleukodystrophy phenotype evolution - is family history important?

Matos Tania , Jorge Zulmira , Costa Cristiana , do Vale Sonia

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...

ea0063p915 | Diabetes, Obesity and Metabolism 3 | ECE2019

Profile of patients using continuous subcutaneous insulin infusion in portugal

Osorio Ana Sofia , do Vale Sonia , Cruz Diogo

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...

ea0063ep12 | Adrenal and Neuroendocrine Tumours | ECE2019

Lost to follow-up in classic congenital adrenal hyperplasia: a case report

da Costa Cristiana Gomes , Matos Tania , do Vale Sonia

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...

ea0049ep41 | Adrenal cortex (to include Cushing's) | ECE2017

Silent pheochromocitoma – a rare case of adrenal incidentaloma

Martins Ana Filipa , Vale Sonia do , Martins Joao Martin

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...

ea0049ep96 | Adrenal medulla | ECE2017

Paraganglioma and Fallot Tetralogy: case report

Martins Ana Filipa , Martins Joao Martin , do Vale Sonia

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...

ea0049ep281 | Calcium &amp; Vitamin D metabolism | ECE2017

Fahr Syndrome and idiopathic primary hipoparathyroidism – clinical case

Martins Ana Filipa , Martins Joao Martin , do Vale Sonia

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 ...

ea0049ep853 | Clinical case reports - Pituitary/Adrenal | ECE2017

Ocult Cushing syndrome: (adicional) difficulties in hypercortisolism approach

Martins Ana Filipa , Martins Joao Martin , Vale Sonia Do

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 ...