Endocrine Abstracts

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...

A 51-year-old woman with no significant past medical history presented with left flank pain, accelerated hypertension, progressive deterioration in renal function and left sided pleuritic chest pain. CTPA revealed pulmonary oedema and left adrenal haemorrhage. Urinary catecholamines were marginally elevated (24 h Urinary Metadrenalines 7.58 μmol/24 h) raising the possibility of an underlying phaeochromocytoma. Short synacthen test showed a sub-optimal response (0 min cort...

Cofactors of the nuclear hormone receptors are crucial in regulating their transcriptional activity. The glucocorticoid receptor (GR) is a member of the nuclear hormone receptor superfamily, involved in the regulation of metabolism, inflammation and stress–responses and many GR cofactors are known, including p300. Here, we identify a new cofactor for GR: TTC5/Strap, tetratricopeptide repeat domain 5/ stress–responsive activator of p300. Strap is a TPR motif containin...

The aldosterone synthase gene encodes the final step in the production of aldosterone. The aldoststerone synthase gene is polymorphic and variants within the gene and the regulatory region have been associated with hypertension and a phenotype of relatively higher level of aldosterone and its metabolites. However to date; none of the polymorphisms in the regulatory region of CYP11B2 have been shown to alter transcription. Seven novel polymorphisms in the promoter region of CYP...

The use of high doses of the ergot-derived dopamine receptor agonists such as cabergoline for treatment of Parkinson’s disease has been associated with increased prevalence of echocardiography detected cardiac valve disease. Whether smaller doses of cabergoline used for treating endocrine disorders causes similar valvular abnormalities is not yet conclusively established.We conducted echocardiographic screening of 35 adult endocrine patients on curr...

Introduction: A Mucocele is a collection of mucus enclosed by sinus epithelium within the paranasal sinuses. The pathogenesis is debated but a history of nasal obstruction, nasal surgery, nasal polyps or trauma is common but not universal. Mucoceles can erode local bone structure and invade the orbits. Four cases of sphenoidal mucoceles presenting with headache, 1–15 years post trans-sphenoidal pituitary surgery have previously been reported. We present two cases of front...

Background: Hypopituitarism is an important sequela of traumatic brain injury (TBI) in adults. In paediatric practice, however, there are concerns that it may be under-recognised. Symptoms may be mistaken for post-concussion syndrome, which may result in delayed investigation and diagnosis. Furthermore, predictors of post-traumatic hypopituitarism (PTHP) in children have not been consistently identified. As normal pituitary function is required for growth, serial growth monito...