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...

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...

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 & 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 ...

ea0049gp213 | Thyroid 2 | ECE2017

IgG4-related fibrous variant of Hashimoto thyroiditis in a non-Asian woman

do Vale Sonia , Filipa Martins Ana , Costa Cristiana , Batista Lucas , Mendes de Almeida Margarida

Introduction: First described in 2009, IgG4-related thyroid disease includes several subcategories: Riedel’s thyroiditis, fibrous variant of Hashimoto thyroiditis (FVHT), IgG4-related Hashimoto thyroiditis (HT) and Graves’ disease with elevated IgG4. It is rare, with most cases described in Japan and characterized by increased IgG4 plasma cells at immunostaining.Case Report: A 59-year-old Caucasian women, without known Asian ancestry, was obser...

ea0035p250 | Clinical case reports Pituitary/Adrenal | ECE2014

Hyponatremia and diabetes insipidus: a case report

Gomes Ana Coelho , Martins Joao Martin , do Vale Sonia , Martins Ana Filipa

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...

ea0056p517 | Diabetes therapy | ECE2018

Long-term results of continuous subcutaneous insulin infusion on glycemic control and severe hypoglycemias

do Vale Sonia , Carvalho Raquel , Matos Tania , Costa Cristiana , Filipa Martins Ana , Silvestre Catarina , Joao Bugalho Maria

Introduction: The use of Continuous Subcutaneous Insulin Infusion (CSII) is expected to improve glycemic control and to reduce hypoglycemia events. However, long-term beneficial results in glucose control are not always observed. We evaluated long-time glucose control and severe hypoglycemias in type 1 diabetic patients using CSII, without continuous glucose monitoring.Patients and methods: This was a retrospective study of adult type 1 diabetic patients...

ea0049ep898 | Neuroendocrinology | ECE2017

Acromegaly and malignant neoplasms

Gomes Vania , Barreiros Eduardo , Barreiros Luis , Ferreira Florbela , Gomes Ana , Martins Ana Filipa , Osorio Ana Sofia , Wessling Ana , Silvestre Catarina , Reis Dinis , Nobre Ema , Carvalho Maria Raquel , Mascarenhas Mario , do Vale Sonia , Miguens Jose , Bugalho Maria Joao

Introduction: Acromegaly is a rare disease resulting from pathological oversecretion of growth hormone (GH) and insulin-like growth factor-1 (IGF-1). The clinical spectrum includes cardiovascular and respiratory diseases but also increased risk of benign and malignant neoplasms.Objectives: Evaluate the prevalence of cancer and seek for associated factors in acromegaly.Methods: Retrospective study of 94 patients with acromegaly trea...