Endocrine Abstracts

Introduction: Generously supported by IPSEN)-->Acromegaly is a rare and insidious disease associated with an increased morbidity and mortality. Trans-sphenoidal (TNS) surgery remains the primary therapeutic option, in particular for intrasellar microadenomas and noninvasive macroadenomas. Aims of this study were to describe diagnostic features and to verify the impact of TNS surgery on treatment of acromegaly over three decades, befo...

In our previous investigation on microRNAs expression pattern in parathyroid carcinomas (Ca), we detected the over-expression of microRNAs belonging to C19MC, the largest human cluster on chromosome 19q13.41. In the present study, the analysis of the expression of selected C19MC and the closely distal MIR371-3 clusters microRNAs (MIR512-3p, MIR517C, MIR520H and MIR372) was extended to 11 Ca, 24 adenomas (Ad) and 6 normal glands. The four microRNAs was expressed in 11% of parat...

Tumour-associated myofibroblasts are activated fibroblasts known to influence many aspects of tumour development. Parathyroid tumours show increased microvessels and atypical/malignant tumours are characterized by fibrous bands suggesting activation of the stromal cells. The aim of the present study was to investigate the role of myofibroblasts in parathyroid tumorigenesis. Human parathyroid tissues were analysed by specific immunostaining for the myofibroblast marker alpha-sm...

Introduction: MEN1 is characterized by tumors of parathyroid glands, pituitary and pancreas. Pituitary tumors frequently produce PRL and GH, but acromegaly due to ectopic GHRH secretion has been reported in <1% of cases. Here we present a case of two patients belonging to a MEN1 family (c.207delC; p.P69PfsX118 mutation (ENST00000377313), affected by primary hyperparathyroidism, in association with acromegaly due to ectopic GHRH secretion and bronchial carcinoid, respective...

Introduction: Double aneuploidy involving both sex and autosomal chromosomes (chr) is very rare, Down–Turner syndrome being the most frequent. Fourty-seven cases of Down–Turner mosaicism have been reported, only nine with a karyotype containing Y chr (phenotype: seven male, two ambiguous genitals).Case report: We describe a girl affected with Down-Turner syndrome. The cytogenetic analysis on peripheral lymphocytes, performed 2 months after birt...

Thyrotropin-secreting pituitary adenomas (TSH-omas) account for less than 1% of all pituitary adenomas. Here we report retrospective data of 17 patients (seven M and 10 F) with TSH-oma followed at our centre from 1990 to present. Median follow-up time was 9.7 years. The mean age at diagnosis was 43±12 years. Radiological evaluation revealed macroadenomas in 11 of 17 patients (71.6%). Macroadenomas were extrasellar in 58.4% of cases, while only one microadenoma had extrase...

Radiation therapy is a useful adjuvant tool for the management of difficult acromegalic patients. Its effects on cardiovascular morbidity are still unknown. Aim of the study was to investigate the long-term effects of radiotherapy on metabolic parameters and cardiovascular risk factors.A total of 42 acromegalic patients (11 M and 31 F, age: 55±12 years, RT group), cured after conventional RT (CRT, n=31) or radiosurgery by gamma-knife (GKRS, <...

Adult GH deficiency syndrome is characterized by visceral obesity, dyslipidemia, insulin resistance and is associated with an increased cardiovascular risk. Epicardial adipose tissue, giving its relationship with abdominal visceral adiposity, coronary artery disease, cardiac morphology and function and metabolic syndrome, has been proposed as cardio-metabolic risk indicator. In this study, we evaluated the echocardiographic epicardial fat thickness in 14 patients (8 M and 6 F,...

Parathyroid carcinoma is a rare cause of primary hyperparathyroidism. Though the loss of the oncosuppressor HRPT2 gene product, parafibromin, has been involved in the hyperparathyroidism-jaw tumor syndrome and in a consistent set of sporadic parathyroid carcinomas, parathyroid carcinogenesis remains obscure. MicroRNAs (miRNAs) are a new class of small, non-coding RNAs implicated in embryonic development and cancer. A deregulated miRNA can induce the aberrant expression ...

Background: GH response to oral glucose tolerance test (OGTT) is currently used for the definition of disease remission in acromegaly. This test has been poorly investigated in other pituitary diseases.Aim: To evaluate the impact of a pituitary disease other than acromegaly on GH response to OGTT.Patients and methods: Eighteen patients (13 F & 5 M, age: 50.7±13.1 years) with different pituitary diseases (i.e. non-functioni...