Endocrine Abstracts

Introduction: The insulin-like growth factor-I receptor (IGF-IR) plays a key role in regulating growth, survival and invasion of several human malignancies including prostate cancer. In prostate cancer cells, the IGF-IR expression is upregulated by androgens through a nongenotropic signaling unresponsive to antiandrogens and requiring AMP-response element-binding protein (CREB) activation. This mechanism sensitizes cells to the proliferative and protumor effects of IGF-I. Metf...

Introduction: Kallmann syndrome (KS) is a genetic condition characterized by the association of anosmia or hyposmia and GnRH deficiency resulting in congenital hypogonadotropic hypogonadism (CHH). Different genes can be implicated in KS, and the most frequent allelic variant occurs in the KAL1/ANOS1 gene in the X-linked form. Differential diagnosis is often made with other rare genetic diseases as CHARGE syndrome (CS) that includes hypogonadism, hyposmia and several organ defe...

DHEA, the most abundant circulating adrenal steroid in humans has an uncertain role. DHEA declines with age, and has been suggested to antagonise some glucocorticoid actions. Previous studies have suggested that DHEA may have immunoregulatory, and metabolic functions. In rodent studies DHEA has been shown to improve insulin sensitivity, possibly by opposing glucocorticoid action. Glucocorticoids act on multiple tissues and employ a variety of mechanisms of action.<p class...

Background: Zebrafish is emerging as a comprehensive model system in endocrinology. Zebrafish synthesise steroid hormones in the interrenal (counterpart of the mammalian adrenal), gonad and brain. Data on steroidogenic pathways is patchy and steroidogenic enzymes in zebrafish have not been well characterised. Human 17α-hydroxylase (hCYP17A1) facilitates two conversion steps, 17α-hydroxylase and 17,20-lyase reactions in the adrenal and gonad. Two zCyp17a (zCyp17a1; zC...

Background: Primary empty sella (ES) can be asymptomatic or associated with endocrine and neurological alterations, such as visual defects. Studies in a large number of patients is still lacking.Objective: To study visual deficit in ES and its relationship with hormonal status.Material and Methods: We recorded visual evoked potentials (VEP) by white/black, red/black, blue/black patterns. Isoluminance between red and blue checks all...

Myelolipomas are rare benign tumours resulting from myeloid and adipose mature cells proliferation, both elements have a clonal origin from a common precursor. Myelolipomas predominantly involve the adrenal gland but may develop in extra-adrenal sites. They are hormonally inactive but may coexist with active diseases such as adrenogenital syndrome. They are often asymptomatic but rarely they cause symptoms due to their size or spontaneous retroperitoneal haemorrhage. The myelo...

Premature ovarian failure (POF) is a common cause of female infertility affecting about 1–2% of women under the age of 40. This heterogeneous disorder is characterized by primary or secondary amenorrhea and elevated gonadotropin values. Several defects can cause POF, including autoimmunity, X chromosome abnormalities and gene mutations, but its pathogenesis is still unknown in the vast majority of women with normal karyotype. We recently described two sisters affected wit...