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BackgroundCommunication is complex in endocrine care, particularly during transition from paediatric to adult services. The aims of this study were to examine the feasibility of interventions to support young people to interact with clinicians.MethodsDevelopment and evaluation of a complex intervention in 2 phases: Pre-intervention observational study; Intervention feasibility study.Purposive sample of recordings of 62 consultations with 58 young people aged 11–25 years with long-term endocrine conditions in two paediatric and two adult endocrine clinics.Proportion of time talked during consultations, number and direction of questions asked; Paediatric Consultation Assessment Tool (PCAT); OPTION shared decision making tool; Medical Information Satisfaction Scale (MISS- 21).Young people were invited to use one or more of: a prompt sheet to help them influence consultation agendas and raise questions; a summary sheet to record key information; and the www.explain.me.uk website.ResultsNearly two thirds of young people (63%) chose to use at least one communication intervention. Higher ratings for two PCAT items (95% CI 0.0 to 1.1 and 0.1 to 1.7) suggest interventions can support consultation skills. A higher proportion of accompanying persons (83%) than young people (64%) directed questions to clinicians. The proportion of young people asking questions was higher (84%) in the intervention phase than in the observation phase (71%).ConclusionsInterventions were acceptable and feasible. The Intervention phase was associated with YP asking more questions, which implies that the availability of interventions could promote interactivity.

Fat mass predicts bone accrual in prepubertal children, but obese children have increased fracture risk. We hypothesised that bone size and mass would vary according to prior fracture in obese children. One hundred and three children (52 obese) underwent dual-energy X-ray absorptiometry (DXA) scanning of the lumbar spine, total body, and radial metaphysis and diaphysis. We derived body size-adjusted bone mineral density (BMD) estimates for each site using commonly employed procedures. Following adjustment for either age, age(2) and weight, or height and weight based on a reference group of nonobese controls without previous fracture, obese children with prior fracture showed a 0.8 to 1.2 SD reduction in total body areal BMD (aBMD), a 3.0 SD decrease in lumbar (L2-4) aBMD, and a 2.0 SD reduction in radial shaft aBMD. These changes were significant at p < .005. Lumbar volumetric BMD (vBMD) calculated by Carter and Kroger algorithms was significantly reduced in obese children with prior fracture (2.0 to 3.3 SD). Eighteen percent of obese children fulfilled the criteria for osteoporosis. Despite greater lean mass for height in obese children (p < .0001), total body bone mineral content (BMC) for lean mass was reduced (p = .002). Multiple regression models adjusting for height, weight, and gender demonstrated an inverse relationship between total body fat mass and total body, lumbar, and ultradistal radius BMC and aBMD. The data suggest that fat mass substantially inhibits bone accrual in children with prior fracture. These children may require targeted interventions to increase bone mass during adolescence to achieve optimal peak bone mass and reduce the risk of osteoporosis later in life.

Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understood haematological condition that combines stomatocytic haemolysis with the presence of very large platelets. Five pedigrees showing this haematology were identified. Gas chromatography mass spectrometry (GC-MS) showed that all of the patients with this highly specific haematology had grossly elevated levels of phytosterols in the blood, diagnostic of phytosterolaemia. All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. Three pedigrees showed five new mutations, while two pedigrees showed the common W361X mutation in ABCG8. We draw the following four conclusions: (i) that Mediterranean stomatocytosis/macrothrombocytopenia is caused by an excess of phytosterols in the blood; (ii) that phytosterolaemia, which does not respond to standard statin treatment, can be diagnosed via the distinctive haematology described here, even when the cholesterol is normal; (iii) that phytosterolaemia should be considered in the differential diagnosis of all patients with large platelets; and (iv) that the platelet size should be noted in patients with hypercholesterolaemia.

James, a 13-year-old boy is a tertiary referral for management of long-standing morbid obesity. He has participated in previous attempts at weight loss instigated by the local hospital dietetic department and also attended a 12-week course in the community offering psychological, activity and diet based intervention. Although he briefly slowed his rate of weight gain with the 12-week intervention he has since continued to gain weight inexorably. His current height is 168 cm, weight is 178 kg and he has a body mass index of 63 (Class 3 obesity).

OBJECTIVE: Serum IGF-I levels are monitored during GH replacement treatment in adults with GH defi- ciency (GHD) to guide GH dose adjustment and to minimize occurrence of GH-related side-effects. This is not routine practice in children treated with GH. The aim of this study was to evaluate changes in (1) serum IGF-I, IGFBP-3 and IGF-I/IGFBP-3 molar ratio, and (2) serum leptin, an indirect marker of GH response, during the first year of GH treatment in children with disordered growth. DESIGN: An observational prospective longitudinal study with serial measurements at five time points during the first year of GH treatment was carried out. Each patient served as his/her own control. PATIENTS The study included 31 patients, grouped as (1) GHD (n=20) and (2) non-GHD (Turner syndrome n=7; Noonan syndrome n=4), who had not previously received GH treatment. MEASUREMENTS: Serum IGF-I, IGFBP-3 and leptin levels were measured before treatment and after 6 weeks, 3 months, 6 months and 12 months of GH treatment, with a mean dose of 0.5 IU/kg/wk in GHD and 0.7 IU/kg/wk in non-GHD groups. IGF-I, IGFBP-3 and the calculated IGF-I/IGFBP-3 molar ratio were expressed as SD scores using reference values from the local population. RESULTS: In the GHD group, IGF-I SDS before treatment was lower compared with the non-GHD (-5.4 ± 2.5 vs. -1.8 ± 1.0; P < 0.001). IGF-I (-1.8 SDS ± 2.2) and IGFBP-3 (-1.1 SDS ± 0.6) levels and their molar ratios were highest at 6 weeks and remained relatively constant thereafter. In the non-GHD group, IGF-I levels increased throughout the year and were maximum at 12 months (0.3 SDS ± 1.4) while IGFBP-3 (1.1 SDS ± 0.9) and IGF-I/IGFBP-3 molar ratio peaked at 6 months. In both groups, IGF-I SDS and IGF-I/IGFBP-3 during treatment correlated with the dose of GH expressed as IU/m2/week (r-values 0.77 to 0.89; P = 0.005) but not as IU/kg/week. Serum leptin levels decreased significantly during GH treatment in the GHD (median before treatment 4.0 g/l; median after 12 months treatment 2.4 g/l; P = 0.02) but not the non-GHD (median before treatment 3.0 g/l; median after 12 months treatment 2.6 g/l). In the GHD group, serum leptin before treatment correlated with 12 month change in height SDS (r = 0.70, P = 0.02). CONCLUSIONS: The pattern of IGF-I, IGFBP-3 and their molar ratio during the first year of GH treatment differed between the GHD and non-GHD groups. Calculation of GH dose by surface area may be preferable to calculating by body weight. As a GH dose-dependent increase in serum IGF-I and IGF-I/IGFBP-3 may be associated with adverse effects, serum IGF-I and IGFBP-3 should be monitored routinely during longterm GH treatment. Serum leptin was the only variable that correlated with first year growth response in GHD.

SummaryHuman growth is non-linear and short term changes in height velocity cannot be used to predict future growth. This paper discusses the current knowledge of growth dynamics in the context of a historical review of the subject.

Introduction The Kids In Control OF Food (KICk-OFF) is a cluster-randomised controlled trial, which aims to determine the efficacy of a 5 day structured education course for 11-year-olds to 16-year-olds with type 1 diabetes (T1DM) when compared with standard care, and its cost effectiveness. Less than 15% of children and young people with T1DM in the UK meet the recommended glycaemic target. Self-management education programmes for adults with T1DM improve clinical and psychological outcomes, but none have been evaluated in the paediatric population. KICk-OFF is a 5-day structured education course for 11-year-olds to 16- year-olds with T1DM. It was developed with input from young people, parents, teachers and educationalists. Methods and analysis 36 paediatric diabetes centres across the UK randomised into intervention and control arms. Up to 560 participants were recruited prior to centre randomisation. KICk-OFF courses are delivered in the intervention centres, with standard care continued in the control arm. Primary outcomes are change in glycaemic control (HbA1c) and quality of life between baseline and 6 months postintervention, and the incidence of severe hypoglycaemia. Sustained change in self-management behaviour is assessed by follow-up at 12 and 24 months. Health economic analysis will be undertaken. Data will be reported according to the CONSORT statement for cluster-randomised clinical trials. All analyses will be by intention-to-treat with a two-sided p value of

Growth hormone (GH) stimulates linear growth and improves nitrogen balance in many catabolic states, including sepsis, and in malnutrition associated with chronic obstructive pulmonary disease. In children with cystic fibrosis (CF), these anabolic effects could aid survival and enhance suitability for transplantation. We assessed response to 0.49 IU/kg/week of recombinant human growth hormone (hGH) for 6–12 months in seven children with cystic fibrosis. All showed an initial increase in height velocity (0.33-4.14 cm/year) and height standard deviation score (P

Splenogonadal fusion is a rare congenital malformation where an abnormal union occurs between the spleen and gonad or mesonephric derivatives. Although it occurs in females it is much less prevalent than in males (male:female ratio, 16:1), but this may partly be because of the inaccessibility of the female gonads leading to under-diagnosis. To our knowledge this is the first case of splenogonadal fusion associated with sex reversal reported in the literature.

Knemometry has been used to measure lower leg growth during 32 nine day courses of dexamethasone in 26 babies ranging from 24 to 32 weeks' gestation at birth. Mean leg length velocity was 0.37 mm/day in the 10 days before steroids. Administration of dexamethasone was associated with a decrease in velocity in all babies, and in 15 leg shortening was documented. Mean leg length velocity during steroid treatment was -0.003 mm/day. After the course of dexamethasone was completed there was an immediate increase in leg length velocity to a mean of 0.52 mm/day over the first 10 days then falling to a value similar to the growth velocity observed before treatment. Leg length had reached the value predicted by growth before steroids about 30 days after dexamethasone. The reduction in leg length velocity occurred despite a significant increase in energy intake and decrease in oxygen requirements.

The characteristics of a knemometer designed for accurate lower leg measurement in babies were assessed. Repeated measurement of a 100 mm Perspex rod gave a mean length of 99.993 mm and a mean SD of 0.058. When used to measure leg length, technical error of the measurement technique was 0.31 with a mean leg length of 98.49 mm (coefficient of variation 0.31%). Leg lengths measured at birth in 324 babies from 23 to 42 weeks' gestation gave an estimated in utero leg length velocity of 0.43 mm/day (95% confidence interval 0.41 to 0.45). Assessment of interobserver variation showed poor agreement in absolute values of leg length, although similar estimates of leg length velocity could be obtained. The neonatal knemometer allows measurements to be made in situations where conventional growth measurements are not possible. It is believed that knemometry has an important role in accurate evaluation of factors that can influence short term bone growth.

Background: Phytosterolaemia (sitosterolaemia) is a rare autosomal recessive condition caused by mutations on the ABCG5 and ABCG8 gut transporter proteins. This leads to accumulation of plant-derived cholesterol-like molecules in blood and tissues.Case: We describe a family of Bangladesh origin, where three siblings (two males and one female) have homozygous mutations for phytosterolaemia, and exhibit short stature and adrenal failure with the female having ovarian failure.Findings: The index case (18-year-old female) and her sibling (16 years) have adrenal insufficiency with hyperpigmentation and raised levels of ACTH, at 367 and 690 ng/l respectively. The youngest child at 7 years has normal adrenal function. In addition, the index case has ovarian failure and sibling 2 has partial growth hormone deficiency.Conclusion: Although short stature is a recognised phenomenon, no previous association has been made between phytosterolaemia and other endocrine abnormalities. We postulate that the elevated plant sterol levels in phytosterolaemia may interfere with endocrine hormone synthesis; in particular, we present evidence that adrenal cholesterol metabolism may be preferentially affected, accounting for the adrenal insufficiency.

C.C., a 13-year-old Muslim girl, presented to the accident and emergency department with a history of polyuria, polydipsia, and weight loss over several weeks. She was noted to have an increased appetite. There was no family history of autoimmune disorders. On examination, her pulse rate was 146 bpm, and her weight was between the 9th and 25th percentiles, with a height at the 75th percentile. She was dressed with a traditional headscarf, and neck examination was not performed. No documentation of any thyroid symptoms (e.g., tremor or eye signs) was made. However, she was noted to be slightly agitated and had a rapid speech pattern. Initial biochemical tests showed urine 2+ ketones and 2+ glucose, with a random blood glucose of 462.6 mg/dl. Her pH was 7.39, with a bicarbonate of 406.8 mg/dl. She was managed as having newly diagnosed diabetes without acidosis. Her screening blood samples were collected as per protocol. She was started on subcutaneous insulin, and, after initial diabetes education, she was discharged home …

Services for children with diabetes are a good model for audit because of relatively well-defined and available measures of outcome. Estimation of glycated haemoglobin (HbA1) is accepted as one index of control, although the assay and normal ranges vary in different centres. Sheffield has a stable clinic population and we have taken blood for HbA1 on each patient two to four times per year since 1983. HbA1 values have been aligned in 3-monthly increments from time of diagnosis to construct a graph showing the mean plus or minus two standard deviation values for the clinic population and also a rough ‘centile chart’ that describes the unfortunate but expected pattern of deteriorating control with duration of diabetes. There are undoubtedly methodological flaws in this novel approach; however, such charts constructed for each clinic may be a suitable basis for comparative assessment of the control of an individual and also for auditing the effects of changes in practice that strive for optimum glucose levels in the clinic population.

We report a girl with premature adrenarche, in whom the presenting feature was hidradenitis suppurativa. This association lends support to the view that hidradenitis suppurativa is an androgen-dependent disorder.

A premature infant with duplication of material from chromosome 11 and some features of the Beckwith-Wiedemann syndrome developed the bronze baby syndrome when exposed to phototherapy. He subsequently developed hepatocellular dysfunction and died aged 5 weeks. Post mortem examination revealed striking hypoplasia of intralobular bile ducts but little inflammatory change or necrosis in the liver.

BackgroundWhile obesity is known to have many physiological consequences, the psychopathology of this condition has not featured prominently in the literature. Cross-sectional studies have indicated that obese children have increased odds of experiencing poor quality of life and mental health. However, very limited trial evidence has examined the efficacy of exercise therapy for enhancing mental health outcomes in obese children, and the Sheffield Obesity Trial (SHOT) will provide evidence of the efficacy of supervised exercise therapy in obese young people aged 11–16 years versus usual care and an attention-control intervention.Method/designSHOT is a randomised controlled trial where obese young people are randomised to receive; (1) exercise therapy, (2) attention-control intervention (involving body-conditioning exercises and games that do not involve aerobic activity), or (3) usual care. The exercise therapy and attention-control sessions will take place three times per week for eight weeks and a six-week home programme will follow this. Ninety adolescents aged between 11–16 years referred from a children's hospital for evaluation of obesity or via community advertisements will need to complete the study. Participants will be recruited according to the following criteria: (1) clinically obese and aged 11–16 years (Body Mass Index Centile > 98thUK standard) (2) no medical condition that would restrict ability to be active three times per week for eight weeks and (3) not diagnosed with insulin dependent diabetes or receiving oral steroids. Assessments of outcomes will take place at baseline, as well as four (intervention midpoint) and eight weeks (end of intervention) from baseline. Participants will be reassessed on outcome measures five and seven months from baseline. The primary endpoint is physical self-perceptions. Secondary outcomes include physical activity, self-perceptions, depression, affect, aerobic fitness and BMI.