Endocrine Abstracts

Objective: Biochemical assessment of male hypogonadism relies on estimation of freely available testosterone. Gold standard measurement is by equilibrium dialysis but this is not practical in clinical use. We compared two calculation methods; bioavailable (non-SHBG bound) testosterone (Morris et al.), and free (non-SHBG non-albumin bound) testosterone (Vermeulen et al.) for their diagnostic performance.Design: Free testosterone and bioa...

Background: UK South Asians (SA) are at risk of vitamin D deficiency (VDD, defined as 25-OH vitamin D <25 nmol/l) and insufficiency (VDI, 25-OH vitamin D 25–49 nmol/l), which increases the risk of metabolic bone disease. As VDD and VDI are often asymptomatic, many individuals will be unaware of this metabolic abnormality. As there is little information on how to detect VDD/VDI in the community, we wished to investigate if they were identified more effectively using ei...

Introduction: Measurement of bloodspot 17-OHP is the current method of assessing hydrocortisone replacement in patients with congenital adrenal hyperplasia (CAH). Bloodspot 17-OHP has been measured in Southampton by LC–MS/MS since August 2011. Clinical observations of signs and symptoms of under- and over-treatment are equally as important.The aim of this audit was to assess whether the 17-OHP profile results are being appropriately used for adjustm...

DKA guidelines aim to reduce risk of cerebral oedema. We present the outcomes of three young females with severe DKA with reduced conscious level at diagnosis that required deviation from these guidelines.A. 12-year-old, pH 6.88 with DKA and sepsis. Received 20 ml/kg initial fluid bolus. CT head scan was normal. Hypotension required further fluid boluses, inotropes and an increase in fluids to 65% above the rate on DKA protocol. Although slow to wake aft...

We report two cases with initial presentation of sudden onset ophthalmoplegia in i) a patient recently diagnosed with breast carcinoma and ii) a patient subsequently diagnosed with carcinoma lung. The first patient (68 years) was referred to the tertiary endocrine unit with a 2 weeks history of visual loss associated with 3rd cranial nerve palsy in her right eye and with a temporal hemianopia in her left eye. MRI showed an enhancing sellar and suprasellar mass. Initial biochem...

Background: Increased childhood cancer survival has resulted in an accruing cohort faced with potential infertility. We have previously shown that sperm cryopreservation is acceptable to 70–80% of adolescents and testicular volume, LH and testosterone concentrations positively predict success in ~33% that bank. However, little is known about semen characteristics in relation to age and puberty. Here, we present data on our subcohort of 79 boys who produced a semen sample ...

Background: The level of 25OH vitamin D (25OHD) which separates deficiency from sufficiency is heavily deabted. With decreasing 25OHD levels, typical biochemical derangements set in, such as increasing parathyroid hormone (PTH) and alkaline phosphatase (ALP) levels, and decreasing phosphate and calcium levels. In adults, serum concentrations of PTH reportedly start to rise when serum 25OHD levels drop below 30 μg/l. Such data are scarce in children....

Introduction: Fracture incidence is increased during and after treatment for childhood acute lymphoblastic leukaemia (ALL). Studies using DXA, which measures a composite of both trabecular and cortical bone mineral density (BMD), have shown reduced BMD during treatment. We therefore used peripheral quantitative computed tomography (pQCT) to investigate changes in compartmental (cortical and trabecular) volumetric BMD (vBMD) and bone geometry, and evaluated the influence of tre...

Aldosterone synthesis is heritable; a single nucleotide polymorphism (SNP) in the promoter of the aldosterone synthase gene (position −344, rs1799998) has been associated with an increased plasma aldosterone levels and hypertension. However, deletion of this site has no effect on gene transcription in vitro and therefore the mechanism that links genotype with phenotype is unclear.We identified a polymorphism at position −1651 T/C (rs13...

We describe the case of two patients who presented with non-mechanical bowel obstruction as a consequence of an underlying, undiagnosed Phaeochromocytoma. The first patient was referred in to the surgical team by his GP with signs and symptoms of small bowel obstruction. He described abdominal pain, distension and vomiting and had not opened his bowels for a week. The X-ray supported the clinical diagnosis and he went on to have an abdominal CT scan. The scan did not identify ...