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...

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: The assessment of pituitary function is often achieved by means of sequential determinations (pool) of hormone levels such as prolactin and gonadotrophins. For the determination of prolactin levels the guidelines of the Endocrine Society are clear in recommending a single sample determination.Objective: To evaluate differences between single sample and pool (0′, 20′ and 60′) determinations for assessing prolactin, FSH and ...

Introduction: Amenorrhoea and galactorrhoea are manifestations that may allow earlier diagnosis of pituitary tumors associated with excess somatotropin (ST) and prolactin (PRL) levels.Objective: To evaluate clinical, analytical and imaging characteristics of ST and PRL producing tumors and its affect on diagnosis.Methods: Retrospective study including acromegalic patients diagnosed between 1982 and 2012. Information on clinical, an...

Introduction: Generously supported by IPSEN)-->Elevated levels of somatotropin (ST) and IGF1 in acromegalic patients are associated with high morbidity and mortality. The normalization of ST and IGF1 allows the reversal of most of their negative effects.Objective: To evaluate characteristics present at diagnosis, predictive of cure, after surgery, in patients with ST-producing tumors.Meth...

Introduction: Generously supported by IPSEN)-->Acromegaly is a chronic disease caused by GH hypersecretion resulting in increased IGF1 levels. The actions of these hormones result into a broad spectrum of clinical manifestations.Objective: To evaluate clinical and analytical parameters, imaging, and treatment outcome in a population of acromegalic patients.Methods: Retrospective study of ...

Introduction: Amiodarone-induced thyrotoxicosis(AIT) is a condition fraught with difficulties from the diagnostic and therapeutic standpoints. It can be developed precociously or years after the beginning amiodarone uptake and after its suspension. AIT is subdivided in three different forms. Type 1 is developed in subjects with underlying thyroid disease, being caused by an exacerbation by iodine load of thyroid autonomous function. Type 2 is a form of destructive thyroiditis ...

Introduction: McArdle disease is a rare recessive disorder of glycogen metabolism, related to muscle phosphorylase deficiency. It usually presents in adolescence or early adulthood with muscle cramps, exercise intolerance, easy fatigability, and progressive weakness as glycogen is the primary source of energy for intense muscle activity. Few reports described the association of McArdle disease and type 2 diabetes and some authors suggested that hyperglicemia and hyperinsulinem...