Endocrine Abstracts

Phaeochromocytoma is a catecholamine producing tumour arising from the adrenomedullary chromaffin cells. It produces hormones such as epinephrine, norepinephrine, catecholamine and dopamine. (1) There have been some case reports describing an association between Brown adipose tissue (BAT) accumulation due to catecholamine excess caused by a phaeochromocytoma. We present a similar case in this abstract. A 77 year old lady was referred to the community geriatricians with symptom...

Hypoparathyroidism (HP) is a rare disease characterized by an absence or inappropriately low concentrations of circulating parathyroid hormone, leading to hypocalcaemia, hypophosphatemia and elevated urinary calcium excretion.Aim: To determine complications in chronic post-surgical HP patients.Material and methods: We have analyzed the data from 76 patients (71 women and 5 men; median age 51.8 years (range 18–77)) with chronic...

Background: PHPT is the leading cause of hypercalcemia in outpatients. Its clinical presentation varies from asymptomatic forms to renal or bone complications. The only curative treatment is surgical resection, and delayed diagnosis can lead to serious morbidity.Objective: Identify the presence of PHPT at least one year prior to referral to endocrinology consultation. Secondly, determine whether diagnostic delay leads to increased complications.<p cl...

Introduction: Primary hyperparathyroidism associated with multiple myeloma has been rarely reported to coincide, but relapse of previously remitted primary hyperparathyroidism concurrent with a plasma cell proliferative disorder has not been described.Case report: A 76-year-old female was referred to the endocrine clinic for evaluation of primary hyperparathyroidism discovered incidentally during hospitalization for angina. She had a corrected calcium of...

Introduction: MODYs are being identified more frequently but the rarity of some types still precludes in-dept knowledge of their natural course of disease. One of this rare forms is MODY 5, the result of a mutation on the hepatocyte nuclear factor 1 beta (HNF-1B) gene that associates with genitourinary and pancreatic malformations/dysfunction.Case report: A 24-year-old female was referred to the Endocrinology clinic due to hyperglycaemia identified on pr...

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of Cushing syndrome and in 25–55% of cases is caused by mutations in ARMC5 gene. A 37 y.o. female was referred to our center with a diagnosis of ACTH-independent Cushing syndrome. Laboratory testing confirmed endogenous hypercortisolism (urinary free cortisol 5063.5 nmol/24 h (60–413), midnight salivary cortisol 56.6 nmol/l (0.5–9.4), midnight serum cortisol 1427 nmol/l (46–...

PARADIGHM™ is a global registry (NCT01922440) of patients diagnosed with hypoparathyroidism (HPT) ≥6 months regardless of aetiology and management. Routine medical care data were entered using electronic case report forms; the 36-item Short Form Health Survey was completed by patients. Baseline-recorded data are reported for 492 patients enrolled as of 1 December 2016 from 41 centres. At baseline, 78% were women, mean (S.D.) age was 49 (17)...

Introduction: ACC is a rare tumour with a incidence of 0.7–2.0/per million, more common in women between 40 and 50 years. Can be diagnosis as a incidentaloma or for clinic of abdominal pain and autonomous o hormone secretion symptoms (Cushing syndrome and hirsutism). We present the management of a particular case of hirsutism for ACC.Case report: Sixty four year old woman referring increase hair and a deeper voice for 1 year. As personal antecedents...

Gout is an arthritis characterized by the deposition of monosodium urate cyristales in the joints because of chronic hyperuricemia. Infections, intravenous contrast materials, acidosis, trauma, surgical interventions can be counted as common causes of acute gout attack. The aim of this study was to present postoperative gout attack at a patient with parathyroidectomy.Case: Sixty five year old man presented with back pain and fatique was admitted to our e...

Background: Germline heterozygous mutations in the MEN1 gene located on chromosome 11q13, predisposes to the development of tumors in multiple endocrine tissues. The MEN1 gene encodes a protein of 610 amino acid residues, known as menin which is involved in genome stabilization as well as in several steps of cellular division, conferring tumor suppression activity in MEN1-associated target tissues. The three main endocrine tissues affected by tumors in MEN1 are parathyroid (95...