Endocrine Abstracts

Background: Diabetic gastroparesis is a disabling condition with no consistently effective treatment. Ghrelin infusion, in animal studies, increases gastric emptying and reverses post-operative ileus. We present the results of the first double-blind placebo-controlled cross-over study of ghrelin in gastric emptying in patients with diabetic gastroparesis....

BackgroundDiabetic gastroparesis is a disabling condition with no consistently effective treatment. Ghrelin infusion, in animal studies, increases gastric emptying and reverses post-operative ileus. We present the results of the first double-blind placebo-controlled cross-over study of ghrelin in gastric emptying in patients with diabetic gastroparesis.MethodsTen insulin requiring diabetic patients (5 men, 6 ...

A 17 year old phenotypically female Middle Eastern patient presented with a short history of abdominal pain. Laparotomy and biopsy confirmed extensive mixed germ cell tumour with yolk sac elements. After referral to London, remission was achieved with 6 cycles of Bleomycin, Etoposide and Cisplatinum (alpha feta protein decreasing from 12 714 to 5 milli units per litre). Examination revealed short stature, absent pubertal development and primary amenorrhoea. She had palmar, buc...

Calcium sensing receptor (CaSR) mutations may result in either hypocalciuric hypercalcaemia or hypocalcaemic hypercalciuria due to a loss or gain of function, respectively. It has also been postulated that some gain of function CaSR mutations may result in idiopathic (i.e. normocalcaemic) hypercalciuria (IH). We reasoned that such CaSR mutations would lead to an early onset of IH and have sought for them in 12 unrelated children who were normocalcaemic and developed IH nephrol...

Mutations in the HSD11B2 gene explain the syndrome of apparent mineralocorticoid excess (AME), which is characterised by severe hypokalaemic hypertension. Cortisol acts as a mineralocorticoid through failure of its inactivation to cortisone by 11beta-hydroxysteroid dehydrogenase type 2 (11beta-HSD2). Patients are diagnosed by a raised THF+allo-THF/THE ratio. To date, approximately 30 mutations have been described in HSD11B2. Recently, three apparently unrelated kindreds with A...

Cortisol metabolism is modulated by inhibition of 11 beta-hydroxysteroid dehydrogenase type 1 (11 beta HSD1) during GH replacement (Weaver et al, Clin Endocrinol, 1994, 41, 639; Gelding et al, Clin Endocrinol, 1998, 48, 153) and in active acromegaly (Moore et al, J Clin Endocrinol Metab, 1999, 84, 4172). 11 beta HSD1 activity is also influenced by both fat mass and insulin. To determine the relative contribution of GH/IGF-I to alteration in cortisol metabolism we have examined...

Introduction: We present a patient with co-existence of 3β-Hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2) the rarest form of Congenital Adrenal Hyperplasia (CAH) and Bartter Syndrome (hypokalaemic alkalosis secondary to hyperaldosteronism), a unique dual combination of opposing pathologies that has never been reported in the literature.Case Report: A female infant (46XX) born at 34/40 weeks gestation, weighing 2.67 Kg (−1.54 SDS) to n...

Context: Approximately 15% of people with hypothyroidism remain symptomatic despite treatment. The Thr92Ala substitution in DIO2, may influence T3 tissue levels.Methods: We assessed HADS anxiety and depression scores in HUNT2 in 50,901 individuals (6,687 homozygous for Thr92Ala) of whom 1,480 had a history of levothyroxine use (180 homozygous for Thr92Ala). Anxiety and depression caseness (score>=8) by levothyroxine and Thr92Ala status was a...

Context: Up to 15% of people with hypothyroidism remain symptomatic despite treatment with levothyroxine. A proportion of these utilise combination thyroid hormone replacement, T3 monotherapy and desiccated thyroid extract (DTE). We sought to explore thyroid hormone profiles in these patients.Methods: We performed hourly blood tests (8.30am-4.30pm) to assess TSH, T3 and T4 levels in 49 individuals (n =14 combination thyroid hormone replacement, ...

Introduction: The Controlled Antenatal Thyroid Screening II (CATS) study, a large randomised trial of thyroxine supplementation for suboptimal gestational thyroid function (SGTF), reported higher attention deficit hyperactivity disorder (ADHD) scores in 9 year-old children exposed to higher thyroid hormone (TH) in utero. We investigated if this was accompanied by altered myelination.Methods: Eighty-five children...