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...

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: 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: 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...

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 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...

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...