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: 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: 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: 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: Congenital adrenal hyperplasia (CAH) is a prevalent disturb in female to male gender identity disorder (GID). However, psychoendocrinology of GID is not yet fully understood.Case Report: A 22-year-old patient(46, XX), was sent from Psychiatry-Sexology to Endocrinology consultation for GID to start hormonal treatment. Self-awareness as a male began at 12-year-old. Menarche at the age of 13 years. At 14-year-old, it was noticed overgrowth of ...

Introduction: Cutaneous metastization of differentiated thyroid carcinomas is a rare event.Clinical case: MMS, a 69-year-old male was submitted to left hemithyroidectomy+isthmectomy on May 2006 after FNA of a left node revealed follicular tumor. Histology showed Hurthle cell adenoma. The patient maintained irregular follow-up by endocrinologist. In October 2011 he referred the appearance of small bilateral cervical skin nodules. Physical exam showed thre...

Introduction: POEMS (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes) syndrome is a rare multisystemic disease. Diagnosis requires two major criteria and at least one minor criterion. Major criteria include polineuropathy and a monoclonal plasma proliferative disorder (almost always lambda). Minor criteria include osteosclerotic bone lesions, Castleman disease, organomegaly (including lymphadenopathy), oedema, pleural effusion or ascites, e...

Introduction: Ectopic Cushing’s syndrome is a rare disease, with a reported incidence of 0.1/million per year. This disorder accounts for approximately 12–17% of patients with ACTH-dependent Cushing’s syndrome. Small cell lung carcinoma is responsible for about 20% of cases, although ectopic ACTH hypersecretion occurs in only 0.5–2% of these tumours. Hypercortisolaemia is usually severe and of rapid onset. Optimal treatment is surgical excision of the tumou...

Background: Transphenoidal surgery is still the best initial therapy for Cushing’s disease (CD), with a high probability of cure and few risks or complications. However, pharmacotherapy has a role as primary or adjunctive therapy: when surgery is delayed, in case of postoperative persistence or recurrence of hypercortisolism, or while waiting for radiotherapy effectiveness. Ketoconazole, a steroidogenesis inhibitor, is nowadays the main drug used to CD control by reducing...