Endocrine Abstracts

Case: A 33 year old gentleman presented with significantly raised testosterone levels, testicular pain, erectile dysfunction and weight loss. He denied use of anabolic steroids. Upon physical examination he looked muscular and tanned. Left testicle was tender with no palpable mass. Raised androgen levels (Siemens immunoassay) were confirmed by liquid chromatography tandem mass spectrometry (LC-MS/MS), ruling out assay interference. In view of his ongoing denial of substance mi...

Case: A 33 year old gentleman presented with significantly raised testosterone levels, testicular pain, erectile dysfunction and weight loss. He denied use of anabolic steroids. Upon physical examination he looked muscular and tanned. Left testicle was tender with no palpable mass. Raised androgen levels (Siemens immunoassay) were confirmed by liquid chromatography tandem mass spectrometry (LC-MS/MS), ruling out assay interference. In view of his ongoing denial of substance mi...

GH has contra-insulin actions and exogenous GH can reversibly reduce insulin sensitivity in patients treated with GH. It has been recently reported that the exon 3 – deleted (d3) isoform of the GH receptor (GHR) appears to be preventive for type 2 diabetes mellitus in adult subjects (GH&IGF Res 2007;17:392). Aim of this study was to investigate possible influences of the GHR-d3 polymorohism on glucose metabolism, lipid profile and BMI in children treated with GH for G...

Central Hypothyroidism (CeH) is a rare thyroid hormone production defect due to an insufficient stimulation of a normal thyroid gland. Candidate genes for isolated CeH include TSHβ (several cases reported) and TRHR (only one case reported so far). Here, we report the clinical and genetic studies in 2 males and 3 females affected with isolated CeH with normal/low TSH levels (0.05–0.95 mU/L) and low FT4 levels (3.6–4.6 pM). None of the patients was detected at neo...

GH acts at the target cell through the GH receptor (GHR), stimulating a cascade of events that leads to target gene transcription. Polymorphisms of the GHR (GHRPs) have been reported in the general population and have been described in exons 3, 6 and 10, although their prevalence is not well defined. It is conceivable that GHRPs might affect the growth response to exogenous GH in children with short stature of different origin. To evaluate the prevalence of the different GHRPs...