Endocrine Abstracts

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...

Introduction: Primary hypoparathyroidism (PH) is a rare condition. After surgery and chronic alcoholism, an autoimmune disease is the most common etiology and must specifically be considered in the context of a patient with other autoimmune endocrine diseases.Case report: MASD a male caucasian patient aged 31, was admitted to the emergency department because of perioral and hand paresthesias, and carpal spasm, in the context of a generalized anxiety reac...

Introduction: Graves’ disease is an autoimmune condition with an estimated prevalence of about 2%, 5–10 times more frequent in females. A multifactorial nature is assumed, with genetic contribution accounting for up to 80% of the variability. Relevant genes includegeneral autoimmune risk loci, such as the HLA region, CTLA-4, PTPN22 and CD40, as well as thyroid-specific loci (thyroglobulin and TSH receptor genes). We report a particular case of Graves’ d...

Introduction: Several studies suggest a higher risk of colorectal cancer (CRC) and colon polyps (CP) in acromegaly, however there is still controversy regarding associated factors (AF) able to contribute for its development. Data on the prevalence of CRC and CP in Portuguese patients with acromegaly are limited.Objectives: To assess the prevalence of CRC and CP in acromegalic patients and compare to the normal Portuguese population. To determine the rele...

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...

Addison’s disease (AD), also known as primary adrenal insufficiency, is caused by destruction or dysfunction of the adrenal cortex, resulting in hypocortisolism. The usual clinical features of chronic AD are non-specific and include fatigue, nausea, vomiting and hyperpigmentation. We describe the case of a 58-year-old African black male with AD presenting with recurring severe hypoglycaemia. The patient was admitted several times to the emergency department with hypoglyca...

Pseudohypoparathyroidism (PHP) is a rare group of genetic disorders characterised by end-organ resistance to parathyroid hormone (PTH). We describe the case of a 34-year-old Caucasian female with severe hypocalcaemia presenting with a first generalised seizure. Her medical history was significant for bilateral cataract. She had three healthy children, and no family history of note. On examination, she had positive Chvostek’s sign. Biochemical analysis showed serum calcium...

Introduction: Kallmann syndrome (KS) is a developmental disorder characterised by hypogonadotropic hypogonadism and anosmia. Known genetic causes account for up to 30% of patients with KS, with FGFR1 mutations being identified in 10%. FGFR1-related KS has an autosomal dominant inheritance with incomplete penetrance. We present a family with KS due to a novel variably penetrant FGFR1 mutation, where the presenting features included cleft lip/palate and anosmia...

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...