Endocrine Abstracts

Case history: 20 year old male with Asperger's and OCD was admitted as a psychiatric inpatient and started on aripiprazole and subsequently quetiapine. His symptoms were well controlled, however his creatine kinase rose significantly over the subsequent 3 months. He had no symptoms of neuroleptic malignant syndrome and despite other parameters being investigated, no other causes were found. For this reason, advice from endocrinologists was sought for advice on management of a ...

Prader–Willi syndrome (PWS) is a complex genetic disorder caused by the absence of normal activity in the paternally expressed genes from chromosome 15q11–q13. PWS is characterised by hyperphagia, muscular hypotonia, developmental and cognitive delays, behavioural problems and endocrine abnormalities. Obesity and short stature are common.Endocrine deficiencies: The combination of the phenotype and reduced GH and IGF1 levels indicates a dysfunct...

Introduction: Prader–Willi syndrome (PWS) is a complex genetic disorder caused by the absence of normal activity in the paternally expressed genes from the chromosome 15q11–q13. PWS is typically characterised by hyperphagia, muscular hypotonia, developmental and cognitive delay, behavioural problems and endocrine abnormalities. Obesity and short stature are common. Controlled studies of hormonal treatment in the transition period are not available.<p class="abste...

New UK growth charts using the new WHO standard for children from birth to four years should now be used for all babies born in England after May 11th 2009 (October 2009 in Scotland).The WHO charts for the first time describe optimal rather than average growth, set breast feeding as the norm and are suitable for all ethnic groups. UK children fit the new charts well for length and height but will look appear relatively heavier by the age of one. This wil...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder affecting the calcium-sensing receptor (CaSR) expressed in the chief cells of the parathyroid glands and in the renal tubules. The CaSR permits the parathyroid gland to sense variations in serum calcium thus regulating parathyroid hormone (PTH) secretion; it also regulates calcium excretion in the kidneys. In FHH, loss-of-function mutations in the CaSR result in a higher serum calcium d...

Introduction: Unstimulated cortisol is commonly used as a screening test for adrenal insufficiency. In the UK over the last decade there has been a large increase in the numbers of requests for cortisol being made in both primary and secondary care. To increase the specificity of an unstimulated cortisol, and thus reduce unnecessary referrals and Short Synacthen Tests, the recommendation is that an early morning cortisol (EMC) is performed between 08:00 and 09:00 h. There is e...

Background: Diabetes is a primarily self-managed condition, and education to patients and families is an essential component of a diabetes service. In line with accepted UK practice, our diabetes team provides a comprehensive education program at diagnosis and regularly thereafter.Methods: From October 2017 to January 2018, all patients attending diabetes clinic were offered a pseudo-anonymised mixed methods survey, covering experience of education, barr...

Aims: Develop and validate a LC–MS/MS assay for the measurement of serum 17-hydroxyprogesterone (17-OHP) and to establish reference ranges for levels observed in the follicular and luteal phases of the menstrual cycle.Method: Serum samples (200 μl) underwent liquid extraction using di-ethyl ether (1 ml). A deuterated internal standard was used. 20 μl extract was injected onto a Waters Atlantis C18 column using a Waters 2795 Alliance HPLC s...

Introduction: Starvation ketosis outside pregnancy is a rare phenomenon and is unlikely to cause a severe acidosis. Pregnancy is an insulin resistant state due to placental production of hormones including glucagon and human placental lactogen. Insulin resistance increases with advancing gestation and this confers a susceptibility to ketosis, particularly in the third trimester. Starvation ketoacidosis in pregnancy has been reported and is usually precipitated by a period of s...

Background: In England 15% of children are obese and 29% children are overweight (including obese). This data has huge implications for children and young people’s (CYP) quality of life and increased risk of complications as young adults, also has great costs implications for the NHS. If we can identify and support the overweight and obese CYP and their families, we should prevent them from progressing to adult obesity and reduce associated complications.<p class="abs...