Endocrine Abstracts

Introduction: The glycogen storage disease (GSD) is a rare disorder of carbohydrate metabolism resulting from the defective synthesis and utilization of glycogen. GSD-1a is a subtype of GSD caused by a deficiency in glucose-6-phosphatase activity, which leads to decreased conversion of glucose-6-phosphate to glucose. The dominant features at presentation are hypoglycemia and lactic acidemia. Long-term complications include blood glucose lability, lactic acidemia, short stature...

Introduction: RET germline mutation in codon 634 of exon 11 is one of the most frequent mutations of classical multiple endocrine neoplasia type 2A (MEN2A). Virtually all patients with classical MEN2A develop medullary thyroid carcinoma (MTC), which is often the first manifestation of the disease and usually occurs early in life. Pheochromocytomas (PHEOs) tend to be diagnosed several years later or simultaneously with the MTC.Case report: The pa...

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...

Background: The effect of maternal weight gain in obstetric and perinatal morbidity in pregnant with gestational diabetes (GD) is not established.Objectives: Evaluation of the impact of weight gain in obstetric and perinatal outcomes in women with GD.Methods: Retrospective study of women with GD between January/2020-March/2021. Weight gain in pregnancy was evaluated by 2009 IOM recommendations, women were divided in 3 groups: exces...

Introduction: Primary hyperparathyroidism (PHPT) is characterized by parathyroid hormone (PTH) overproduction, causing hypercalcemia. The most common cause is a parathyroid adenoma. PHPT most frequently presents as asymptomatic hypercalcemia or with nonspecific symptoms. Less frequently, it presents with the classical manifestations of bone disease and nephrolithiasis. Acute pancreatitis (AP) as the initial manifestation of PHPT has been reported rarely. Hypercalcemia can caus...

Introduction: Bilateral inferior petrosal sinus sampling (BIPSS) is the gold-standard for the differential diagnosis of ACTH-dependent Cushing Syndrome when the pituitary adenoma on MRI is doubtful or absent. This study aimed to analyze whether BIPSS can influence the outcome in patients with Cushing disease (CD).Methods: Retrospective, descriptive study. Forty-two patients with CD submitted to transsphenoidal surgery (TS) between 2005 and 2016 were divi...

Introduction: Successful long-term management of patients with Cushing’s disease (CD) remains a challenge. Few studies have analyzed the long-term recurrence rates of CD after transsphenoidal surgery (TS).Objectives: 1) to compare the outcome of patients with and without postoperative criteria for cure; 2) to compare the outcome of patients with and without a histological diagnosis of adenoma.Methods: Retrospective, descriptiv...

Introduction: Cushing’s disease (CD) is responsible for 80% of endogenous Cushing’s syndrome (CS). However, distinguishing the cause of ACTH-dependent CS – CD vs ectopic CS – can be extremely difficult. Bilateral inferior petrosal sinus sampling (IPSS) has the highest diagnostic accuracy in this evaluation.Objectives: The aims of this study were to determine the accuracy of bilateral IPSS in the differential diagnosis of ACTH-dependen...

Introduction: Cardiovascular changes are rare but life-threatening consequences of primary hyperparathyroidism.Case report: A 53-year-old man, with past and family history of peptic ulcer, presenting with coronary heart disease and ischemic and dilated cardiomyopathy, treated with cardiac resynchronization. He was admitted to the emergency room due to sustained monomorphic ventricular tachycardia (MVT). Laboratory tests revealed primary hyperparathyroidi...