Endocrine Abstracts

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 ...

Introduction:: Advances in MDT working in Disorders of Sexual Development (DSD) are supported by activities which call for national and international collaborations. In the EuroDSD programme we are collecting clinical data and performing functional studies to assess the pubertal outcome of PAIS patients raised male.Methods: Clinical information including birth phenotype, surgery, medication and pubertal outcome, from 16 post pubertal PAIS patients with k...

Objective: The terminology used to describe abnormalities of sex determination and sex differentiation was revised in 2006. It was anticipated that new terms, such as “disorder of sex development” (DSD), would improve communication between health professionals, aid parental understanding and be acceptable to affected individuals. The purpose of this study was to evaluate whether the new terminology has been an improvement compared to previous nomenclature.<p clas...

Introduction: Post-traumatic hypopituitarism (PTHP) is a recognised sequel of traumatic brain injury (TBI), occurring in 25–69% of adult patients, but there are few data on the prevalence or natural history in childhood. Our aim was to determine pituitary function in children at least 4 years after TBI requiring paediatric intensive care unit (PICU) admission. At the same time body composition was evaluated.Methods: Children discharged from the regi...

A 46-year-old gentleman presented with a history of general lethargy, weight gain, limb weakness, easy bruising and severe back ache. Examination showed central obesity, proximal myopathy, with marked thinning and extensive bruising of the skin. His blood pressure and glycemic control were suboptimal and resistant to treatment. Routine blood tests including a chest X-ray were normal. An overnight dexamethasone suppression test showed failed serum cortisol suppression (749 nmol...