Endocrine Abstracts

The chicken gonadotropin-releasing hormone receptor (cGnRH-R) is notable for having a cytoplasmic carboxyl-terminal tail, which is not present in the mammalian GnRH-Rs. We have previously shown that the cGnRH-R undergoes rapid agonist-induced internalization, and requires the carboxyl-terminal tail for this process. To investigate the role of the carboxyl-terminal tail of the cGnRH-R in relation to its rapid internalization, and to identify the key residues involved, a series ...

The Miller-McKusick-Malvaux (3M) syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of skeletal anomalies, facial dysmorphism and normal intelligence. Mutations in the CUL7 gene (6p21.1) are most often responsible for 3M syndrome (67% of cases). Other causal mutations include those in the OBSL1 gene (2q35), in 28% of cases, or the CCDC8 gene (19q13.33), in ...

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Invest...

Central obesity is strongly associated with insulin resistance and chronic sub-clinical inflammation, which is implicated in the development of type 2 diabetes (T2DM). However, the mechanisms underlying this link remain unclear. Recently JNK, a mitogen activated protein kinase (MAPK), has been implicated in obesity and insulin resistance by interfering with insulin action. Studies in rodent models show that phosphorylated JNK-1 is elevated in obesity, whilst the absence of JNK...

Introduction: Sex hormone-binding globulin (SHBG) regulates the bioavailability of sex steroid hormones, which in turn regulate reproductive function. The potential association of SHBG gene polymorphisms with the age at menopause has not been examined.Objective: The present study aimed to assess the possible relationship between the pentanucleotide (TAAAA)n repeat polymorphism in the promoter of the SHBG gene and the age at menopause in a Greek fe...

Background: Osteocalcin (OC) is a bone-specific protein produced primarily by osteoblasts during bone formation. The OC concentration is used to assess fracture risk and monitor treatment of osteoporosis and other disorders of bone metabolism. To adequately interpret the OC concentration, it is necessary to calculate reference ranges from a healthy reference population, adapted to a specific laboratory method.Methods: We established a healthy reference p...

Nebido (testosterone undecanoate 1000 mg injection) was used to induce pubertal development in 2 apubertal men with Kallmann’s syndrome, in their 6th decade.Case 1: Originally diagnosed with Kallmann’s syndrome aged 21, but then discontinued treatment for the next 25 years. Now aged 50, he was markedly eunuchoid: G3-4, P3, A1.Investigations: Testosterone 1.0 nmol/l, LH and FSH <0.5IU/l.Normal fe...

With the cloning of the gene encoding pro-opiomelanocortin (POMC) it became apparent that several other peptides distinct from ACTH would be co-secreted from the anterior pituitary into the circulation. This begged the question as to whether these peptides have any biological actions on the adrenal, or to that matter any other tissue. Over the past two decades it has become apparent that the N-terminal fragment known as pro-gamma-MSH plays a role in adrenal physiology.<p c...

Aim: Somatic growth results from the generation of new support and connective tissue. Since collagen is the major protein constituent of connective tissue, its synthesis must be a prerequisite for the normal growth. The aim of the study was to determine age-related reference intervals for P3NP, a collagen – formation marker in a group of normal height prepubertal children and to compare to IGF1 levels.Subjects: Forty-three prepubertal children, male...

In the 27 families with FNAH the onset of hyperthyroidism varies from 18 months to 60 years. Also the manifestation of goiters is variable in these families.A 74 year old women first presented at the age of 69 years in 9/2006 with tachyarrythmia and hypertension. After the initial treatment of her hypertension and oral anticoagulation for her intermittant atrialfibrilation 3/2007 a thyroid workup revealed a suppressed TSH of 0.029 (normal< 0.4 mU/l) ...