Endocrine Abstracts

The insulin signalling system including the insulin receptor tyrosine kinase (IRTK) is evolutionarily ancient and appears in the first multicellular organisms (Cnidarians). The Drosophila melanogaster genome contains seven genes for insulin-like peptides (ILPs) that are expressed in neurosecretory cells in a highly tissue- and stage-specific pattern, DILP1-7. There is however only one IRTK (dIR). This system is important in the regulation of metabolism, growth, reprod...

Introduction: A highly polymorphic microsatellite, comprising a variable length of a cytosine–adenosine (CA) repeat sequence, has been identified in the promoter region of IGF-I gene. The number of CA repeats ranges between 10 and 24 and the most common allele in the Caucasian population contains 19 CA (192 bp) repeats. Several studies investigated the relationship between this polymorphism and IGF-I levels, with conflicting results. Aim of this study was to investigate t...

Background: Generously supported by IPSEN)-->Hypopituitarism is considered to be a risk factor for cardiovascular disease and early death in humans. However, some studies showed that most patients with isolated GH deficiency or combined pituitary hormonal deficiency due to gene mutations (PROP 1, GH receptors gene, GH-1 gene) can survive to advanced age.Aim: To collect clinical data on patients with congenital ...

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...

The pituitary gland is a central regulator of growth, homeostasis and reproduction. It is in turn regulated by the hypothalamus, which generates a number of releasing factors (GHRH, TRH, GnRH, CRH) and the inhibitory hormone somatostatin. The pituitary gland consists of the anterior and posterior lobes, both of which have separate developmental origins. The anterior lobe derives from the oral ectoderm, whilst the posterior lobe derives from the neuroectoderm. The anterior pitu...

Asia occupies 30% of the world’s landmass and contains 60% of the world’s population encompassing a wide diversity of people and demographics. It has been estimated that by 2050, half of all hip fractures in women >65 years of age will occur in Asia. Hip fracture incidence rates among women vary widely in Asian populations, from as low as 100 up to 500 per 100 000. Within the space of 1 to 3 decades in several countries, hip fracture incidence rates have risen dr...

Seminal plasma (SP) contains proteins secreted by testis, epididymis and male accessory glands, involved in the successful fertilization of the oocyte. The function of epididymis, prostate and seminal vesicles are dependent upon the presence of androgenic stimuli.To investigate the role of testosterone in the modulation of the proteomic pattern in SP, we analyzed human SP proteome comparing the panel of common seminal proteins in five fertile normogonada...

Introduction: Idiopathic central hypogonadism (ICH) is a rare and heterogeneous disease due to defects of GnRH secretion or action. ICH could be associated or not with hypo-anosmia respectively identifying the Kallmann’s syndrome (KS) or the normosmic ICH (nICH). Even though 14 disease genes have been identified, in 70% of patients no genetic cause could be identified, suggesting additional regulatory genes and still unknown mechanisms. Thus, with the aim to identify new ...

Introduction: Trisomy 21 or Down Syndrome (DS) patients have a predisposition for Congenital Hypothyroidism which can aggravate their mental status.Hypothesis: The presence of three copy of Dyrk1a gene, localized in chromosome 21 in Humans, is responsible for a thyroidal dysgenesis.Our aim is to understand the molecular mechanisms underlying this condition.Methods: The transgenic Dyrk1a (TgDyrk1a) mouse, our ...

Fetal growth restriction is associated with abnormal placental cell (cytotrophoblast) proliferation. Using an explant model of human first trimester placenta, we have demonstrated that the IGF-I and -II stimulate proliferation in cytotrophoblast and are probably essential for normal placental growth. IGF activates signalling through IGF1R/Akt/ ERK pathways, thus the ability of the placenta to modulate expression of components of these pathways is important for normal pregnancy...