Endocrine Abstracts

Patient in the case, an 18-year-old male, complained of constant tiredness, frequent malaise, day time sleepiness, epigastric pain, poor appetite and consumption of great quantity of water. These conditions had persisted for 3–4 years. He had gone to many different physicians, with different tests taken, but without diagnose. Upon physical examination, the pale skin, scanty of pubic hair, and no presence of beard and axillary hair raised the possibility of Panhypopituitar...

Background: The prevalence of adrenal incidentalomas has increased. The malignancy is determined by radiographic appearance and, secondly, by the size. Adenomas manifest a low attenuation on computed tomography (CT) (<10 Hounsfield Units(HU)).The cut-off point of 10 HU has been proposed to discriminate benign and malignant lesions.Objective: To determine if the cut-off point of 10 HU is useful in clinical practice to discriminate benign and malignant...

Anosmin-1, a protein defective in X-linked Kallmann's syndrome (X-KS), presents a structure comprising a cysteine rich N terminus (CR), a whey acid protein (WAP) domain followed by four fibronectin-like III domains (FnIII); and its function is heparan sulphate (HS) dependent. However, anosmin-1 and HS binding affinity is unknown. Although the WAP domain belongs to a protein family demonstrating serine protease inhibitory activity, the interacting serine protease remains to be ...

Introduction: Anosmin-1, which is implicated in the pathogenesis of X-linked Kallmann`s syndrome, consists of a cysteine rich region, followed by a WAP domain and 4 fibronectin type III (FN3) domains. The N-terminal region of anosmin-1, WAP and 1st FN3 domain, is highly conserved in a wide variety of species which suggests that the activity of the protein resides in these conserved segments. Difficulties in the expression of the full-length anosmin-1 by Chinese hamster ovary c...

The primary treatment for prostate cancer (PCa) involves androgen ablation, halting tumour growth through down-regulation of androgen-regulated proliferative genes1. Frequently PCa progresses to an androgen-independent state and untreatable disease. The Androgen receptor (AR) continues to be expressed in many of these tumours, often associated with androgen-independent activation of the AR signalling pathway. Thus, the aim of the study is to understand regulation of...

For years it was thought that the excess male mortality compared to age-matched females was explained by unhealthy behaviours that were more acceptable for men, and not the inherent sex differences in biology. The intention of this review is to illustrate whether it is our environment, hormones or genes that really make the sexes different in terms of the cardiovascular system. My focus will be on the genetic difference between men and women, in particular, the Y chromosome, a...

The defining features of Kallmann's syndrome (KS) are isolated hypogonadotrophic hypogonadism (IHH) and anosmia, the consequences of a GnRH neuronal migratory defect and olfactory bulb agenesis respectively. Additional features in X-linked Kallmann's syndrome (XKI), include unilateral renal agenesis and bimanual synkinesis respectively. XKI results from mutations of KALIG 1, on Xp22.3. The encoded protein anosmin-1, is a hexamodular secreted cell membrane associated extracellu...

Introduction: Couple’s infertility is a major public health problem. Its prevalence is estimated at 15%. In half of the cases, this infertility is of male origin. Different etiologies may be involved, among which genetic abnormalities of the Y chromosome. In this context, we report the cases of two patients with a structural abnormality of the Y chromosome responsible for the abnormalities of spermatogenesisCase Description: The first 26-year-old ca...

Introduction: Autosomal dominant Kallmann’s syndrome (AKS) results from mutations within the fibroblast growth factor receptor 1 (FGFR1: KAL-2). The FGFR family of tyrosine kinases are involved in a multitude of biological processes from embryogenesis to adult homeostasis. The crystal structure of FGF-FGFR-heparan sulphate (HS) ternary complex has provided a basis for understanding the way in which FGF, FGFR and HS cooperate to assist FGFR dimerization. Anosmin-1, KAL-1 g...

During early embryogenesis, the olfactory axons and gonadotrophin-releasing hormone(GnRH)-secreting neurons undergo dynamic processes of differentiation, migration and proliferation, regulated by a complex network of molecular and cellular mechanisms responding to various hormonal and developmental signals. Mutations in anosmin-1 and FGFR1 disrupt this pathway, causing Kallmann's syndrome(KS), a human hereditary disorder with GnRH deficiency and inability to smell. A primary n...