Endocrine Abstracts

Embryonic transcription factors have been involved in tumourigenesis. The transcription factor TBX1 regulates the embryonic parathyroid cells fate. Indeed, it has never been investigated in human adult parathyroids. Here, expression, function and regulation of the TBX1 gene were analyzed in adult normal and tumour parathyroid tissues. Immunohistochemistry identified 30–70% (mean±S.E.M, 52.0±7.3%) of cells expressing TBX1 at nuclear levels...

An embryonic gene signature has been suggested in parathyroid tumours. We investigated the expression of early embryonic stem cell (ESC) genes in parathyroid tumours. POU5F1/OCT4, SOX2 and NANOG transcripts were detected in almost all parathyroid adenomas (PAds; n=22) and atypical PAds (n=3), besides the variable expression of ESC genes KLF4, EGR1, and REX1/ZFP42. OCT4, SOX2 and NANOG proteins expression w...

Introduction: Adrenocortical tumours comprise frequent adenomas (ACA) and rare highly malignant carcinoma (ACC). Livin/ML-IAP/BIRC7 is a member of the inhibitors of apoptosis proteins family, which are involved in tumorigenesis, mostly through the inhibition of caspase-3. Aim of the study was to evaluate the expression of livin/BIRC7 in normal and neoplastic adrenal glands.Methods: The mRNA expression of BIRC7, its isoforms livin α...

Introduction: CyberKnife (CK) is an emerging treatment for pituitary tumours (PT) resistant to other therapies.Patients and methods: We report long-term CK effect on endocrine function and tumour volume in 20 PT patients (11M/10F, mean age 58.6±14.4years). Twelve patients harboured a non functioning adenoma, 2 an ACTH, 5 a GH (one case of TSH co-secretion) and 2 a PRL-secreting PT. Before CK nine patients had normal while 11 presented impaired pitui...

Introduction: Phaeocromocytomas are a rare catecholamine secreting tumours that can present in multiple ways. The classic triad of symptoms consists of episodic headache, sweating, and tachycardia. Most patients do not have the three classic symptoms. Sustained or paroxysmal hypertension is the most common sign. Among less common symptoms and signs constipation has been described and few cases of megacolon and phaeochromocytoma have been published.Case r...

Background: Acromegaly most commonly results from an excess production of GH and secondary increase in IGF1. More than 95% of the time from the pituitary gland, but the source of excess GH secretion may not necessarily be pituitary in origin. Ectopic acromegaly may arise due to neuroendocrine tumors by production of GHRH and in <0.5% of the cases from ectopic pituitary remnants in the sphenoid sinus.Clinical case: We present a case of a 37 years old ...

GEP NETs, especially gastrinomas, occur in 40–70% of MEN1 patients and represent the main cause of death in these patients.We aim to investigate the efficacy of lanreotide autogel (ATG) in the treatment of MEN1-related gastrinomas.We report a monocentric series of seven MEN1 patients (three M, and four F) treated with lanreotide ATG (120 mg/4 weeks) for a mean period of 62.1 months. Plasma gastrin levels have been measured at ...

It is well known that insulin resistance (IR) is associated with polycystic ovary syndrome (PCOS). Oxidative stress (OS) is, in turn, related to IR, with a vicious cycle. PCOS patients presented higher circulating concentrations of oxidative stress products such as homocysteine, malondialdehyde, an increase of superoxide dismutase and reduction of antioxidants such as glutathione and paraoxonase-1 activity. Most studies however concerned obese PCOS subjects. The physiopatholog...

The chemical composition of the cervical mucus (CM), its physical characteristics and the volume secreted show cyclical changes during the menstrual cycle.Clinical proteomics has recently developed new technologies and bioinformatics useful in identifying molecular markers of physiology and pathology. The development of novel mass spectrometers, like the LTQ-Orbitrap, considerably contributed to increase the quantity of acquired data. Aim of the present ...

Introduction: Isolated ACTH deficiency (IAD) is a rare entity characterized by secondary adrenal insufficiency with low levels of serum cortisol, decreased production of ACTH, adequate secretion of other pituitary hormones and normal pituitary structure on radioimaging. Due to the rarity of its occurrence the prevalence of IAD as a cause of secondary adrenal insufficiency has not been determined. To our knowledge 200 cases are described in the literature. Impairment of GH secr...