Endocrine Abstracts

Context: Initial studies reported that RET rearrangements, RAS mutations and BRAF mutation are mutually exclusive genetic events in papillary thyroid carcinoma (PTC). Subsequently, simultaneous occurrence of BRAF mutation and RET/PTC or H4-PTEN has been described in few PTC cases, indicating that these genetic alterations might coexist in PTC in the same cell or in different cells, at least sporadically. In light of the recent finding that frequently BRAF mutation is present o...

Context: Although unexplained conflicting results are present in the literature, most of studies report the association of BRAFV600E in papillary thyroid carcinoma (PTC) with a more advanced disease and with a worst prognosis. We recently demonstrated that in most of the cases PTC consists of a mixture of tumour cells with wild-type and mutant BRAF. Hence, we examined the association of percentage of BRAFV600E alleles with clinicopathologic parameters at diagnosis and disease ...

Background: Hypogonadism is a clinical entity characterized by low serum testosterone (T) levels associated with several clinical signs and symptoms which can negatively affect the quality of life. T replacement therapy (TRT), restoring serum T concentrations, improves signs and symptoms related to hypogonadism. Many T formulations are presently available. The aim of the study was to assess effects of 2% gel TRT on serum T concentrations, erectile function, muscle strength and...

Activation of the Ras/ERK pathway and stimulation of proliferation by integrins in thyroid cells requires CaMKII activation. To date, whether this role of CaMKII is a general mechanism or is restricted to integrin signalling is unknown. As oncogenic activation of the Ras/ERK pathway by mutated Ras, RET/PTC and Trk is frequent in papillary thyroid carcinoma (PTC), we investigated the expression and activation level of CaMKII in PTC primary culture and in stable cell lines.<...

Differentiated thyroid cancers (DTC) have an excellent prognosis with a 10 year disease-related survival of 85%. However, about 5% of DTC patients develop an aggressive disease with distant metastasis and loss of radioactive iodine (RAI) avidity. An effective treatment is not available for these patients and survival rates are less than 15%. The MAP-kinase pathway is strikingly involved in the pathogenesis of DTC. This is why compounds striking the MAP-Kinase pathway may be us...

Background: The prostate cancer (CaP) is among the most commonly diagnosed cancers, accounting for about 20% of all newly diagnosed cancers. Subject of recent studies is the role of vitamin D in the pathogenesis of CaP. Literature data speculated about the role of vitamin D in the progression of Cap. In addition, several studies have shown an association between VDR gene polymorphism FokI and CaP especially in the Asian population.Objective: The aim of t...

Introduction: Acromegaly is a systemic disease frequently characterized by hypogonadotropic hypogonadism, endothelial dysfunction and diseases classically associated with an increased incidence of erectile dysfunction (ED) (hypertension, dyslipidemia, impaired glucose metabolism) and premature ejaculation (prostatic disease). Furthermore, the high prevalence of ED may negatively affect ejaculatory function. The purpose of this study was to evaluate the ejaculatory function of ...

Introduction: Acromegaly is frequently characterized by hypogonadotropic hypogonadism, endothelial dysfunction, hypertension and impaired glucose and lipid metabolism, classically associated with impaired sexual function (SF). There are no literature data on the SF in acromegaly. The purpose of this study was to evaluate the SF of patients with acromegaly.Patients and methods: Twenty-two patients (47.8±8.6 years) were enrolled into the study. Among ...

Deficiency of 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3), an enzyme converting androstenedione (A) to testosterone (T) in the Leydig cells of the testis, is a rare cause of autosomal recessive 46,XY disorders of sexual development (DSD). A 18-year-old phenotypically female patient presented with primary amenorrhea. She had deep voice, macrocephaly, broad forehead, enlarged nasal tip, macrostomia, facial acne, gynecomastia, left-convex dorsal scoliosis, hypopla...

By direct measurement of muscle sympathetic nerve activity (MSNA) we previously demonstrated a markedly decreased adrenergic tone in newly diagnosed acromegalic patients. The present study was aimed at confirming this finding in a larger group of patients and establishing the pathophysiological role of insulin resistance, GH and IGF1 levels, circulating leptin and extracellular water (ECW) in this abnormality.Study design: Fifteen de novo patients...