Endocrine Abstracts

The skeletal dysplasias or genetic skeletal disorders (GSDs) are a heterogeneous group of over 450 conditions associated with varying degrees of disproportionate short stature. The diagnosis of these conditions has relied on a combination of clinical and radiographic assessment. The original classifications of the GSDs was based on x-ray imaging, but Spranger and others predicted that there would be ‘families’ of GSDs with the same underlying molecular basis. The adv...

Testosterone in serum may be unbound (free), or bound to either sex hormone binding globulin (SHBG) or albumin. Consequently, ‘total’ serum testosterone analysis may be misleading in situations where binding protein concentrations are abnormal. Current methods for estimating the biologically active (bio-available) serum testosterone concentration involve physical separation of testosterone fractions and are not amenable to high-throughput analysis. The use of automat...

Liquid chromatography tandem mass spectrometry (LC–MS/MS) methods are considered superior to immunoassay for the analysis of serum 25-hydroxy vitamin D (25-OHD) due to improved performance and potential cost benefits. As LC–MS/MS is appropriate for the analysis of other clinically relevant hormones tandem mass spectrometers are becoming commonplace in UK clinical laboratories. However, like immunoassay, LC–MS/MS methods are not foolproof and inappropriate use of...

Introduction: Perrault syndrome (PS), a rare autosomal recessive condition mostly reported in females, is characterized by sensorineural hearing loss (SNHL), ovarian dysgenesis manifesting as primary amenorrhoea (PA), premature ovarian insufficiency (POI) and neurological manifestations but little is known about testicular function in males.Case summary: A 34 year-old man was referred with progressively reduced libido, e...