Endocrine Abstracts

Complete androgen insensitivity syndrome (CAIS) is a rare X-linked disorder caused by androgen receptor gene (AR) mutations that result in complete impairment of genital virilisation. Usually CAIS patients, who have normal production of AMH by Sertoli Cells, do not show Mullerian derivatives, although the persistence of Mullerian duct derivatives up to now have been described in nine cases.Here, we report the case of a fetus aborted at 20 weeks for genit...

PKA regulatory subunit 2B (R2B) is the most expressed in mouse adipose tissue, where it plays an important role in regulating energy balance. We previously demonstrated that R2B is the most abundant R subunit in human adult subcutaneous and visceral adipose tissues. We further showed that R2B expression and PKA activation are reduced in adipose tissues from obese as compared to non-obese subjects. Normal adipose tissue development and increases in fat mass associated with obes...

Androgens, by signaling through the androgen receptor (AR), mediate a wide range of male developmental processes. Complete androgen insensitivity syndrome (CAIS), a X-linked disorder caused by AR gene mutations, represents an in vivo model to study the role of androgens in sexual development. Here, we reported a case with CAIS at 20 weeks of gestational age harbouring a novel AR missense mutation (D767V), which was predicted to prevent androgen binding and...

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...

TERT promoter mutations (chr5: 1 295 228C>T e chr5: 1 295 250C>T) were recently described in thyroid tumors, with a prevalence ranging 8–25% in papillary thyroid cancer (PTC). We and others reported that these mutations strongly associate with a poor outcome in differentiated thyroid cancers. Aim of the present study was to further investigate the prognostic role of both TERT promoter (TERTMUT) and BRAF<...

Thyroid cancer is highly prevalent in women aged 15–44 years, suggesting that in females the fertile age could be regarded as a risk factor. Consistently, in the last decades epidemiological and experimental findings indicated a possible role of oestrogens in the development and progression of differentiated thyroid tumours. We studied the expression of oestrogen receptor α (ER α) and Progesteron receptor (PR) in 182 female and male patients with papillary thyro...

Endocrine Connections 2013 2 196–207. DOI: 10.1530/EC-13-0049...

Tumour-associated fibroblasts (TAFs) are important players in tumour formation, growth, enhancement and metastasis. We firstly investigated the TAFs component in human parathyroid neoplasia from patients with primary hyperparathyroidism. Alpha-smooth muscle actin (alpha-SMA) has been used to identify activated TAFs (myofibroblasts). Culturing explants from parathyroid adenomas (PA, n=5), large spindle-shaped alpha-SMA+ cells outgrew from explants and the expression of...

Recent advances in the molecular classification of papillary thyroid cancer (PTC) have improved the diagnostic work-up and the care of patients with thyroid nodules and cancer, highlighting the need to routinely add information on the genetic pattern to the classification of cancer. The genomic background of a large series of 208 PTCs followed at a single Center was analysed by a custom MA genotyping platform (PTC-MA), which allows the simultaneous detection of 19 genetic alte...

Telomerase is a ribonucleoprotein polymerase that maintains telomere ends and plays a role in cellular senescence, being repressed in postnatal somatic cells. Mutations C228T and C250T of the telomerase reverse transcriptase (TERT) were recently reported in human cancers. In thyroid cancer, TERT mutations are more frequent in aggressive histotypes, but very few data are available about the potential correlations with clinical features in papillary and follicular thyroid cancer...