Endocrine Abstracts

Introduction: Pregnancy in a patient with acromegaly is uncommon, as the enlarging pituitary adenoma suppresses gonadotropin secretion rendering the patient amenorrhoeic and infertile. About 40% of the women with pituitary adenomas also have hyperprolactinaemia, which further decreases the likelihood of pregnancy.Case report: A 32-year-old woman was sent to our centre in the first trimester of pregnancy with the diagnostic of gestational diabetes. Clinic...

Introduction: Type 1 diabetes mellitus (T1DM) and multiple sclerosis (MS) are organ-specific autoimmune diseases. Their association, first described in a study in Sardinia, left questions about their clustering, clarified by the Familial Autoimmune and Diabetes Study, which showed for the first time an highly increased prevalence of MS in adults with T1DM, reinforced by further epidemiological studies that also revealed increased risk of T1DM in MS patients.<p class="abste...

Introduction: Seip–Berardinelli congenital lipodystrophy (SBCL) is an extremely rare autosomal recessive disorder characterized by a congenital absence of adipose tissue. Hepatic steatosis, splenomegaly, skeletal muscle hypertrophy, hypertrophic cardiomyopathy, insulin-resistance and diabetes mellitus (DM) are some of the features of these patients.Case report: A 20-year-old caucasian-male patient was referred to pediatric endocrinology unit at 6-mo...

Background: A pheochromocytoma is a rare neuroendocrine tumor, originating from adrenomedullary chromaffin cells. The pre-surgical management of pheochromocytoma is classically performed with alpha-blockers. However, in some cases other pharmacological approaches can be considered.Objective: The aim of the study is to describe the clinical course of patients with pheochromocytoma prepared for surgery with calcium channel blockers (CCB).<p class="abst...

Multiple endocrine neoplasia type 1 (MEN-1) is characterized by an increased predisposition to the development of tumors of the endocrine tissues, such as parathyroid glands, anterior pituitary, and duodenopancreatic neuroendocrine tumors. It is an autosomal dominant disorder due to germline mutations in the MEN-1 tumor suppressor gene. This gene encodes the menin protein, which is involved in cell growth and differentiation, and in sensing or repairing DNA damage. We present ...

Primary amenorrhea is characterized by the absence of menstruation after the age of 14 without the development of secondary sexual characteristics or after the age of 16 with the development of these. Hypogonadotropic hypogonadism (HH) corresponds to an uncommon etiology of primary amenorrhea. In HH, the differential diagnosis includes Kallmann Syndrome, isolated hypogonadotropic hypogonadism and CHARGE Syndrome. The CHARGE syndrome corresponds to an extremely rare syndrome, w...

Introduction: Primary thyroid angiosarcoma (TAS) is a rare malignancy that arises from endothelial cells, and nearly all reported cases originate from the Alpine region of central Europe. Most of the patients are female, elderly, with a history of goiter. Generally, TAS arises as a painless infiltrating mass and patients present with compression symptoms due to the brisk tumor growth. Other TAS clinical presentations are varied and highly non-specific. Metastasis occur early i...

Introduction: Hypercalcemia can be caused by a variety of pathologies/factors. Vitamin D plays a central role in calcium homeostasis, where a tight control of its metabolism is necessary. Inadequate 24-hydroxylase-enzime (CYP24A1) activity leads to failure of 25-hydroxyvitamin and 1,25-dihydroxy-vitamin D3 inactivation, resulting in hypercalcemia.Case report: An asymptomatic, 22-year-old woman was admitted in an Endocrinology appointment for evaluation o...

Introduction: Hypogonadism is common and occurs prematurely in human immunodeficiency virus (HIV)-infected men, being hypogonadotropic hypogonadism (HH) more frequent. However, HH with very low testosterone has not been described. We present three HIV-infected men with severe HH and normal pubertal development.Case report: Three HIV-infected men, with HIV-1 diagnosis at the ages of 22, 34 and 35 years. Two of them had depressive syndrome, one treated wit...