Endocrine Abstracts

Goiter may be present before birth in utero, at birth or detected at any age thereafter. The goiter may be caused by increased thyrotropin (TSH) secretion resulting from hypothyroidism; antibodies that activate TSH receptors (Graves’ disease) with increased thyroid hormone secretion; or TSH-independent processes, such as inflammation associated with autoimmune thyroiditis, benign and malignant tumors, and infiltrative disease.The causes of goiter in...

Pheochromocytomas and paragangliomas (PCC/PGL) are rare tumours of the adrenal gland or derived from sympathetic and parasympathetic paraganglia occurring sporadically or as part of a familial cancer syndrome. Up to 20% of them are diagnosed in children, and they are not genetically well characterized. As most are functional tumors, children more often present with signs and symptoms related to hypertension. In fact, sustained hypertension is found in more than 60–90% of ...

Primary aldosteronism (PA) is the most common form of endocrine hypertension. The two main causes of PA are aldosterone producing adenoma (APA) and bilateral adrenal hyperplasia (BAH). Efficient and timely screening for PA is of major importance, given the severe cardiovascular outcome of aldosterone excess that is independent of blood pressure levels. Yet, the pathogenic mechanisms leading to aldosterone hypersecretion and cell proliferation are largely unknown.<p class="...

In addition to symptoms of androgen deficiency induced by low serum testosterone concentrations (i.e. classical hypogonadism), also variable phenotypes of androgen insensitivity exist in humans, mainly owing to defective, mutated androgen receptors. A more subtle modulation of androgen effects has been related to the CAG repeat polymorphism (CAGn) in exon 1 of the androgen receptor gene: in vitro, transcription of androgen-dependent target genes is attenuated with incre...

FSH acts via binding to its specific receptors, the FSHR, possessing a large number of SNPs. The FSHR SNPs at nucleotide position 919 and 2039 in exon 10 are very common (heterozygosity: 0.469) and result in the aminoacid transition Thr/Ala at codon 307 and Asn/Ser at codon 680 respectively. In addition a G/A SNP is found in the promoter region at position −29, with the G allele covering 75% and the A allele 25% of the alleles in Caucasians. In turn, the FSHB gene, encod...

Erythropoietin (EPO) is a glycoprotein hormone endogenously produced by the kidney, whose main physiological role is the stimulation of red blood cells production. Since the beginning of the nineties, recombinant human EPO (rhEPO) has been manufactured by pharmaceutical companies and was immediately misused by athletes to increase their muscle oxygenation process, enhancing then tremendously their endurance performances. It is why EPO has been put on the list of the forbidden ...

The worldwide incidence of thyroid cancer has been increasing during the last years and is a public health concern because treatment of thyroid cancer implies high health costs and may raise overtreatment issues. On the other hand, effective medical treatment for advanced disease escaping radiometabolic treatment and not amenable for surgical approach is still lacking. Current methods of detection, decision making, prognostic indications, and monitoring rely on clinical, morph...

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours of neural crest origin, previously referred to as ‘the 10 percent’ tumor due in part to the frequency of inherited forms. During the last decade the scientific community has been witness to a fast increase of knowledge of the genetics of these tumours. In this regards, the use of different strategies and new platforms has allowed to identify up to date thirteen PCC/PGLs susceptibility genes. Currentl...

Prolactinomas are the most prevalent pituitary adenomas. The incidence of prolactinomas varies with age and sex. The ratio between women and men has been estimated to 10:1 before the age of 50 years. Hypogonadism and infertility are important clinical problems associated with prolactinomas. There may be mass effects including visual field defects in a patient with a macroadenoma.Hyperprolactinaemia is a relatively frequent finding in women. It is importa...

The treatment of choice for ACTH-producing pituitary adenoma is selective transsphenoidal adenomectomy. The remission rate after transsphenidal surgical intervention for Cushing’s disease ranges from 69 to 98% (average 83%). If the first pituitary surgical intervention fails, the following questions should be answered: i) Is the localization diagnosis correct without doubt (pituitary or ectopic source of ACTH- overproduction)? ii) Is it reasonable to recommend repeat pitu...