Endocrine Abstracts

Introduction: LH receptor plays an important role in sexual development and reproductive function. Mutations of this receptor lead to the development of three clinical conditions: Leydig cell hypoplasia, hypergonadotropic hypogonadism with primary amenorrhea and familial male limited precocious puberty. The first two entities result from inactivating mutations. In Leydig cell hypoplasia, with autosomal recessive inheritance, the phenotypic spectrum correlates with the degree o...

Background: Generously supported by IPSEN)-->Pituitary abscess is a rare but potentially fatal entity. It represents ~0.2–1% of all pituitary lesions. The symptoms are usually nonspecific. The proper interpretation of imaging studies is of extreme importance to the differential diagnoses.Case: Man, 40 years old, begins complaining of occipital headache (25.04.2011), initially with good response to treatmen...

Cushing’s Syndrome (CS) is an uncommon disease worldwide, being characterized by an increased production of glucocorticoids, and if left untreated can lead to serious consequences and women with CS rarely get pregnant. The aim of our work is to make a systematic review of the cases of pregnancy in patients with previously diagnosed CS, being performed an extensive research of the Medline and Web of Knowledge databases, and add three new cases observed in our institution. ...

Introduction: Familial hypocalciuric hypercalcemia (FHH) is caused by inactivating autosomal dominant mutations with high penetrance of CaSP gene. Contrary to severe neonatal hyperparathyroidism, caused by homozygous inactivation of the gene, familial hypocalciuric hypercalcemia is usually associated with inactivating variants in heterozygoty.Case: Male patient, 73 years, with history of Behçet’s disease and pulmonary sarcoidosis, was refered f...

Introduction: There is a well-established association between acromegaly and insulin resistance (IR). The abnormalities in glucose metabolism may be an important risk factor of cardiovascular morbid-mortality in these patients.Objective: Evaluation of glucose metabolism abnormalities in a population of naïve acromegalic patients and its relationship with delay in diagnosis, gender, levels of insulin like growth factor 1 (IGF1) and GH.<p class="a...

Introduction: Secondary causes of diabetes refer to a category in which diabetes is associated with other diseases. They are thought to constitute less than 2% of the total cases of diabetes.Case report: A 56 year-old caucasian man, with no relevant medical history, presented to the Emergency Department with fatigue, polyuria, polydipsia, polyphagia and involuntary weight loss (6 kg in two weeks). He was hemodynamically stable and exhibited a glycaemia o...

Introduction: Leiomyomas are benign tumors originating from the smooth muscle cells. They occur more frequently in the uterus and in the gastrointestinal system. Adrenal leiomyomas are rare tumors arising from the smooth muscle of the adrenal vein and its tributaries.Case report: Man, 72-years-old, referred to Endocrinology in the context of an adrenal incidentaloma (20 mm maximum diametre) detected in abdominal-pelvic CT performed for the study of splen...

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: Mauriac Syndrome is characterized by the presence of hepatomegaly, growth retardation, delayed puberty and cushingoid features. This entity is traditionally diagnosed during the work-up of hepatic enzymes alterations in children/young adults with type 1 diabetes mellitus (T1DM) with poor glycaemic control. However, the impact of metabolic control in the normalization of hepatic analytic profile is not clarified.Methods and design: Retrospec...

Introduction: Propylthiouracil is a drug used in the treatment of hyperthyroidism and autoimmunity phenomena have been described as a side effect of its use. Despite anti-neutrophil cytoplasmic antibodies (anca) positivity is frequent in patients treated with propylthiouracil, the occurrence of clinically evident vasculitis is rare.Case report: A 65-year-old woman, diagnosed with hyperthyroidism 2 years ago and treated with propylthiouracil (50+...