Endocrine Abstracts

Calcium is an important part of bone tissue. Appropriate calcium intake is necessary for maintenance of healthy bones. In accordance with international recommendations, people at age from 19 to 50 have to consume 1000 mg of calcium daily. For the measurement of the level of the calcium intake we develop worksheet, which contains denomination of different foods and products, with their calcium content (mg), which usually are consumed. Purpose: Measurement of calcium intake by s...

Aim: Aim of our study was to compare: the baseline and metoclopramide induced prolactin plasma level between PCOS women with FAI <5 phenotype (group A)(FAI, total testosterone divided by sex hormone biding globulin, whole multiply by 100) and PCOS women with FAI>5 phenotype (group B).Patients and methods: The study population consisted of 354 lean women with PCOS. In all the patients the prolactin level at 02:00 h, 08:00 h and during the metoclop...

One major issue regarding the clinical use of many peptides is their short half-life span in the body, due to the rapid clearance from the circulation. Thus, at the clinical level, there is a need for a regime of frequent injections of the peptides into the patients to overcome this low stability factor. To overcome this problem, we succeeded to add the signal sequence of O-linked oligosaccharides to the coding sequence of the hormones. The cassette gene that has been u...

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome caused by multiple epigenetic and genetic changes. It is due to genetic and epigenetic mechanisms affecting the balance of imprinted genes on chromosome 11p15.5. This region has two imprinted control regions, ICR1 and ICR2. ICR1 contains the genes H19 and IGF2 genes with H19 being maternally expressed and IGF2 paternally expressed. ICR2 contains the KCNQ1, KCNQ1OT1, and CDKN1C genes. Hypomethylation of KvDMR1 (an...

Glycoprotein hormones are used clinically in the treatment of many diseases. One major issue regarding the clinical use of many peptides is their short half-life due to the rapid clearance from the circulation. The major strategies for overcoming this problem by pharmaceutical companies are based on chemical techniques. To overcome this problem, we used genetic engineering techniques that have been found successful for designing long acting hormones. Overlapping PCR techniques...

The RET proto-oncogene, located on chromosome 10q11.2 encodes a receptor tyrosine kinase. Its extracellular portion contains four cadherin-like repeats and a cysteine-rich region, while the intracellular portion contains the tyrosine kinase domain. RET is essential for development of the sympathetic, parasympathetic and enteric nervous systems and the kidney. Accordingly, RET disruption by germline mutations causes congenital agangliosis of the gastrointestinal tract (Hirschsp...

Corticotropin releasing hormone (CRH), and the urocortins (UCN) play key roles in mammalian pathophysiology. Their actions are mediated through two types of G-protein coupled CRH receptors, (R1 and R2) which exhibit distinct pharmacological characteristics and determine specificity of CRH and UCN actions. Several CRH-R1 mRNA splice variants have been identified in native tissues, encoding receptor isoforms with various aminoacid inserts or deletions, termed R1β, R1c, R1d ...

Introduction: Loss of anosmin-1 function underlies the pathogenesis of X-linked Kallmann's syndrome (X-KS), a disorder characterized by anosmia (loss of smell) and hypogonadotrophic hypogonadism, due to olfactory bulb (OB) dysgenesis and failed migration of gonadotrophin releasing hormone (GnRH) neurons. Additional phenotypic features include bimanual synkinesis and unilateral renal agenesis. Anosmin-1 contains a whey acidic protein-like (WAP) domain and four contiguous fibron...

Expression of the ACTH receptor, MC2-R, is highly restricted, being detectable in the mouse only in the adrenal cortex and adipose tissue. The promoter of the murine MC2-R contains binding sites for SF-1, a transcription factor that has been shown to be essential for the transcriptional activity of a number of steroidogenic genes. However, SF-1 is not expressed in adipocytes and therefore is not essential for MC2-R expression in these cells. We have investigated the requiremen...

A 60 year old nurse presented to the emergency department with palpitations, itchy skin, shortness of breath, diarrhoea, insomnia, weight loss and feeling hot /clammy. She felt her symptoms were in keeping with the menopause although she had been amenorrhoeic for six years. Thyroid function tests revealed fT4 73 pmol/land TSH <0.01 mIU/lhaving been normal six months previously. She was started on carbimazole 40 mg/day and was seen urgently in clinic. She reported to feelin...