Endocrine Abstracts

Introduction: Prader-Willi syndrome (PWS) is a neurobehavioral imprinting disorder, which arises due to an absence of paternally expressed genes within the 15q11.2-q13 region. It is the most common syndromic form of obesity, with an estimated prevalence of about 1 in 25,000 individuals.Case report: we report the case of two monozygotic twins, 20-year-old, naturally conceived, both affected by PWS. They were born by eutocic delivery at 34 weeks of gestati...

Introduction: Amiodarone is a widely used antiarrhythmic drug for refractory atrial or ventricular tachyarrhythmias. Amiodarone-induced thyrotoxicosis (AIT) occurs in up to 6% of patients taking this medication in iodine-sufficient areas of the world and in up to 10% in iodine deficient areas. AIT can be divided into two types: type 1 is a form of iodine-induced hyperthyroidism whereas type 2 is a drug-induced destructive thyroiditis. Type 1 AIT tends to occur in patients with...

Introduction: Insulinoma is a rare pancreatic endocrine tumor derived from ß cells that secret insulin, which results in hypoglycemia. Most are benign and solitary. The median age at diagnosis is about 47 years. The age range for peak incidence is between 30 and 60 years and it is more prevalent in women. Diagnosis relies on clinical features along with laboratory tests and imaging. However, the nonspecific symptoms and small size of these tumors can lead to difficulties ...

Introduction: Ectopic thyroid is a rare entity, resulting from developmental defects at early stages of thyroid embriogenesis. It’s prevalence is 1/100 000–300 000 in general population and 1/4000–8000 in patients with thyroid disease. This condition is more common in females, in Asians and may occur at any age, although it’s most common at younger ages. The most frequent location of ectopic thyroid tissue is at the base of the tongue. In 70–75% of cas...

Introduction: MEN1 is inherited as an autosomal dominant trait, with a prevalence of 2–20/100 000 in the general population. It is characterized by tumors envolving the parathyroid glands, the endocrine pancreas and the pituitary. Other tumors are more rarely associated: adrenal adenomas, carcinoid tumors, pheocromocytomas, angiofibromas, lipomas, collagenomas and meningiomas. The presence of two or more of MEN1 associated tumors is diagnostic of the syndrome.<p class...

Introduction: Hyperparathyroidism is a disease characterized by excessive secretion of parathyroid hormone (PTH). There are three main etiologies: primary (PHPT), secondary (SHPT) and tertiary hyperparathyroidism (THPT). PHPT is characterized by abnormal regulation of PTH secretion by calcium, resulting in hypersecretion of PTH relative to the serum calcium concentration. SHPT is the overproduction of PTH in context of hypocalcemia, most frequently because of vitamin D deficie...

Introduction: Autosomal dominant hypocalcemia (ADH) is a rare condition, caused by activating mutations in the calcium-sensing receptor (CASR) gene. Affected individuals have hypocalcemia with inappropriately low parathyroid hormone (PTH) levels.Case report: A 50-year-old woman, asymptomatic, was referred to our Endocrinology department for investigation of hypocalcemia detected in routine blood analysis (serum corrected calcium was 7.4 mg/dl &#...

Abstract: We report the case of a 65-year-old man who presented with erectile dysfunction to an appointment in our Endocrinology department. He referred fatigue, weight gain and constipation as secondary complaints that had been steadily evolving throughout the past 4 years. He denied other symptoms such as visual impairment or headaches as well as the consumption of any medications or drugs. His past medical history was unremarkable. On examination, BMI was 25.8 kg/m2</s...

Introduction: Polycystic ovary syndrome (PCOS) affects 5–8% of reproductive-age women. The morbidity related to PCOS may include insulin-resistance, type 2 diabetes mellitus (T2DM), obesity, hypertension, cardiovascular disease and infertility. We aimed to evaluate the clinico-biochemical characteristics of PCOS women and establish its relationship with fertility treatment outcomes.Methods: We reviewed clinical records of PCOS women (Rotterdam crite...

Introduction: Medullary thyroid carcinoma (MTC) is a rare form of thyroid cancer, making up about 3–5% of all cases. It is characterized by the synthesis and secretion of calcitonin (Ct). Measurement of Ct has low specificity but is a highly sensitive method for the detection of MTC. MTC with normal or only slightly elevated Ct is a rare occurrence and there are few such reports in the literature.Case report: A 61-year-old male patient was referred ...