Endocrine Abstracts

Background: Cortisol is inactivated to cortisone in the salivary gland by 11β-HSD type 2. Concentrations of cortisone and cortisone in saliva correlate strongly with serum cortisol concentrations (1). Only free, biologically active hormone is measured in saliva, testing is non-invasive and can be performed at home/school, reducing cost and inconvenience to families and NHS resources. We previously reported pilot data from healthy children and young people (CYP) (1). Here we de...

Background: Hypoglycaemia, possibly due to non-physiological hormone replacement, and poor cardiovascular outcomes are described in patients with adrenal insufficiency (AI), particularly in the adult population. In this study, we describe glucose profiles and risk factors for premature cardiovascular disease (CVD) in children with secondary AI (SAI).Methods: Participants underwent continuous glucose monitoring (CGM), for seven days (blinded Dexcom G6 mon...

Background: Seeing the doctor alone has been associated with a better outcome following transition to adult services.Methods: A simple questionnaire was designed for young people (YP) to enquire about being seen alone in paediatric endocrine clinics.Results: The questionnaire was administered to 72 YP young people (37 male) with long term endocrine conditions. The mean age was 15.5 (2.5). 10% of YP thought they should be offered th...

Introduction: Blood glucose control in insulin-dependent diabetes is heavily influenced by compliance, and how insulin is administered, which is emphasised to those with diabetes. However, when a patient is admitted to hospital, the administration of insulin is often by a nurse. The aim of this study was therefore to assess the knowledge of nurses around this subject, and to identify if there was a need for further training.Method: We conducted a prospec...

Background: Saliva is ideal for measuring free, biologically active hormones. Measurements of salivary androgens may be valuable in diagnosis and monitoring of adrenal disorders, however the diurnal profile and robust reference ranges in healthy children are currently undefined. We report salivary testosterone, androstenedione (A4), 11-ketotestosterone (11-KT), 11-β hydroxyandrostenedione (11β-OHA4) concentrations measured throughout the day in healthy children.<...

Adrenal insufficiency (Adr-I) and congenital adrenal hyperplasia (CAH) are important conditions requiring specialist attention and management. Recent CAH genotype–phenotype studies have linked mutations with enzyme functioning and disease severity. Accurate diagnosis for the cause of adrenal insufficiency and the genetic cause of CAH is vital as it impacts management and prognosis.Methods: We audited patients with Adr-I and CAH seen in outpatients f...

Introduction: Turner syndrome (TS) is caused by the absence of all or some of the second sex chromosome. Consequences include short stature and ovarian failure. This study aimed to characterise karyotype-phenotype correlation in patients with TS.Methods: This was a retrospective audit of TS patients from the young person’s endocrine clinic (YPC). The karyotype, final height, pubertal progress and treatment were recorded for each patient and outcomes...

Prader-Willi syndrome (PWS) is a rare genetic condition characterised by hypotonia, early feeding difficulties, hyperphagic obesity, hypogonadism and short stature; with an incidence between 1/15 000 and 1/25 000 live births in the UK. It is caused by failed expression of paternally inherited genes in the imprinting region of chromosome 15q11.2–q13. Recombinant human GH (rhGH) is the main pharmacological treatment used in PWS.Aims: We aimed to revie...

Background: A key element of the transition process is encouraging young people (YP) to become more independent in their healthcare. However it is not known what skills YP feel they need before being ready for transfer to adult services.Method: A simple questionnaire was designed for YP to rate out of 5 A. their current status in terms of 5 aspects of independence in healthcare (5 “yes, I do it all of the time” to 1 “no, my family does it ...

Objective: To evaluate longitudinal growth in 21-hydroxylase deficiency CAH, factors contributing to this and outcome for BMI, weight (Wt) and height (Ht) in adolescence.Methods: Multi-level longitudinal models were used to evaluate growth patterns of 28 males and 29 females with CAH. Age at adiposity rebound was derived from the roots of the fitted curves and compared to UK 1990 references. The influence of hydrocortisone (HC) and fludrocortisone (FC) d...