Endocrine Abstracts

Introduction: Combined central diabetes insipidus (DI) and cerebral salt wasting syndrome (CSW) is a rare clinical finding. However, when this happens, mortality is high due to delayed diagnosis and/or inadequate treatment.Case report: 42-year-old man referred to neurosurgery due to a non functional pituitary macroadenoma with bitemporal hemianopsia. He underwent partial ressection of the tumour on July 2nd 2015. On the following day of surgery he presen...

Introduction: In diabetes insipidus (DI) the serum sodium is often in the high normal range, required to provide the ongoing stimulation of thirst to replace the urinary losses. Marked hypernatremia can occur if a central lesion impairs both ADH release and thirst.Case report: A 57-year-old woman presented with dysuria, polyuria and fever. She was medicated with ciprofloxacin, however, she maintained symptoms, accompanied in the next day by nausea, vomit...

Introduction: Pituitary apoplexy is a rare disease which results of haemorrhage and/or infarction of pituitary gland. The optimal management of this problem still remains controversial between surgery and conservative treatment.Aims: To characterize the clinical presentation, diagnostic workup, treatment and follow up of patients with apoplexy. Methods:Retrospective study of 35 pituitary apoplexy followed in a portuguese hospital from 2006 to 2016.<p...

Introduction: Inferior Petrosal Sinus Sampling (IPSS) is the gold standard test to distinguish between Cushing Disease and ectopic ACTH secretion (EAS), mostly when the biochemical tests are discordant and/or there is no lesion in MRI.Aim: To evaluate the results of IPSS in the diagnosis of ACTH-dependent Cushing syndrome.Methods: Retrospective study that analysed IPSS results performed in the last decade in our centre and integrat...

Introduction: CHARGE syndrome is a rare autossomal dominant genetic disorder with an estimated birth incidence of 1:10000. It affects multiple organ systems and can have a variable phenotypic expression.Case report: 34-years-old man, referred to Endocrinology in the context of bilateral gynecomastia. He had an acute corneal hydrops which was treated by ophthalmology. Physical examination showed short stature (149 cm), obesity (BMI 31.5 kg/m2),...

Introduction: Bilateral macronodular adrenal hyperplasia ACTH-independent (BMAH) represents less than 1% of the causes of Cushing’s syndrome (CS). Studies have shown that mutations in the gene ARMC5 are a common cause of family BMAH and are associated with severe clinical disease and the development of meningiomas.Case report: 64-years-old man presented to our consult due to bilateral macronodular adrenal hyperplasia. He had diabetes mellitus, arter...

Introduction: Leiomyomas are benign tumors originating from the smooth muscle cells. They occur more frequently in the uterus and in the gastrointestinal system. Adrenal leiomyomas are rare tumors arising from the smooth muscle of the adrenal vein and its tributaries.Case report: Man, 72-years-old, referred to Endocrinology in the context of an adrenal incidentaloma (20 mm maximum diametre) detected in abdominal-pelvic CT performed for the study of splen...

Introduction: Central diabetes insipidus (CDI) is a rare complication of acute myeloid leukemia (AML) occurring in less than 0.6% of patients. It is associated with genetic changes in chromosomes 3 and 7. CDI may precede; occur simultaneously or after the diagnosis of AML.Case report: 51-year-old man, with no relevant past medical history, began complaining with polyuria, polydipsia, weakness and weight loss in March 2015.The patient was evaluated in the...

Introduction: Mauriac Syndrome is characterized by the presence of hepatomegaly, growth retardation, delayed puberty and cushingoid features. This entity is traditionally diagnosed during the work-up of hepatic enzymes alterations in children/young adults with type 1 diabetes mellitus (T1DM) with poor glycaemic control. However, the impact of metabolic control in the normalization of hepatic analytic profile is not clarified.Methods and design: Retrospec...

Introduction: Atypical pituitary adenomas have higher risk of aggressive behaviour in particular by the higher growth, local invasion and high risk of recurrence after surgery. In acromegaly the resistance to somatostatin analogues may be another manifestation of these adenomas since higher levels of Ki-67 are associated with poor response to therapy.Case report: A 41-year-old woman presented to our consult with history of headaches, growth of the hands,...