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Aim: To determine the health-care charges associated with monitoring and managing, over 1 year, the cases of elevated insulin concentration, elevated alanine aminotransferase concentration and dyslipidaemia due to overweight or obesity among 15-19-year-old Australian males and females., Methods: Fasting blood samples (n= 500) were collected in 2004 from a representative population sample of adolescents (n= 496; mean age 15.3 years) attending schools in Sydney, Australia. Full service charges and Medicare expenditures for specialist medical and dietary consultations, pathology tests and radiological investigations, over 1 year, under efficient and inefficient health-care delivery models, including and excluding participants in the healthy body mass index (BMI) category., Results: Under an inefficient delivery model and including all participants with elevated risk factors, the Medicare expenditure was $A305.1 million per annum (M pa). Exclusion of participants in the healthy BMI category resulted in an annual Medicare expenditure of $A170.0M pa. Under an efficient delivery model and including all participants with elevated risk factors, the Medicare expenditure was $A295.5M pa. Exclusion of participants in the healthy BMI category reduced annual Medicare expenditure to $A164.8M pa. Medicare expenditure for 15-19-year-olds would increase by 48% if only cases among overweight and obese adolescents were treated and by 85% if all cases were identified and treated., Conclusions: Short-term management of the health consequences of overweight and obesity among adolescents will increase Medicare expenditure on this group by at least 48%. Failure to treat will delay, but compound, health-care expenditure.

Functional phaeochromocytoma and paraganglioma are rare in children and adolescents. We report a 12-year-old male with bilateral phaeochromocytoma in whom germ line testing identified a novel mutation in the von Hippel Lindau gene. Early age of onset, bilateral phaeochromocytoma and other clinical features should prompt germ line DNA testing for mutations in genes associated with familial phaeochromocytoma and paraganglioma syndromes.

Neonatal severe hyperparathyroidism is a rare condition that presents as striking hyperparathyroidism, hypercalcaemia, and metabolic bone disease. The aetiology needs to be determined soon after diagnosis to direct appropriate management and to determine an accurate prognosis. Taking a family history is a valuable clinical tool in paediatric medicine. Presented here is the case of a neonate presenting with severe hyperparathyroidism. Obtaining the family history, coupled with basic parental studies, enabled a rapid aetiological diagnosis, which allowed for conservative management.

The clinical and radiographic features and management of a young person with recently delineated Osteogenesis Imperfecta Type V is described. A female aged 9 years presented with a history of multiple fractures since 3 years of age and bilateral dislocation of the elbows from infancy. She was commenced on a low dose frequent regimen of cyclic intravenous pamidronate, which resulted in progressive improvement in bone density, reduced fracture frequency and remission of symptoms of osteoporosis.

Objective: The aims of the present study were to describe the growth pattern of children starting stimulant medication and to analyse the changes over time in height, weight and height velocity in a cohort of treated patients., Methods: Retrospective review of growth data from files of all newly treated patients with attention-deficit/hyperactivity disorder in one paediatric practice. Forty-four boys and seven girls were treated for 6-42 months with either dexam-phetamine (n = 32) or methylphenidate (n = 19)., Results: During the first 6 months on stimulant medication 44 children (86%) had a height velocity below the age-corrected mean and there was weight loss in 39 (76%). The height and weight standard deviation score (SDS) showed a progressive decline that was statistically significant after 6 and 18 months (P < 0.001, paired t-test). The height velocity was significantly attenuated for the first 30 months (P < 0.01), being lowest during the first 6 months. The mean height deficit during the first 2 years was approximately 1 cm/year. The change in weight SDS was 2.4 times the change in height SDS after 30 months on treatment with a significant correlation (Pearson's correlation coefficient r = 0.88, P < 0.001)., Conclusions: Stimulant medication is associated with a decrease in height and weight SDS during the first 6-30 months with a characteristic pattern on the growth chart.

Congenital and acquired forms of osteoporosis in childhood and adolescence can result in morbidity from fracture and pain in childhood, and place an individual at significant risk for problems in adult life. A range of therapies exist for the prevention and treatment of osteoporosis, including optimization of daily calcium intake, adequate vitamin D status, weight-bearing exercise, treatment with sex steroids where delayed puberty is a problem and, more recently, use of bisphosphonate therapy. Intravenous pamidronate therapy (a bisphosphonate) has been shown to reduce fractures and improve bone density in children with osteogenesis imperfecta, and might prove to be of benefit in other osteoporotic conditions in childhood. However, a number of issues regarding the optimal use of bisphosphonate therapy in children and adolescents remain to be resolved, including total annual dose and frequency and duration of administration. Bisphosphonate therapy should, therefore, be used only in the context of a well-run clinical programme with specialist knowledge in the management of osteopenic disorders in childhood.

Objective: To review the presentation, management and outcome of persistent hyperinsulinaemic hypoglycaemia of infancy seen at the Royal Alexandra Hospital for Children over a 10 year period., Methodology: A retrospective review of 20 subjects was performed. As well as laboratory data, data were collected on clinical presentation, medical and surgical management and developmental outcome., Results: Twenty subjects (11 male) were identified with presentation at a median age of 1.5 months (range 0-10 months), with 10 (50%) presenting in the first week of life. Only 20% of patients were large for gestational age. Diagnosis was made on the basis of high glucose requirements and inappropriately high insulin levels at the time of hypoglycaemia. Eight (40%) responded well to diazoxide treatment alone, seven (35%) received diazoxide in combination with other short-term medical therapy initially and five (25%) required pancreatectomy (repeat surgery in three). Those who required surgery had a higher mean birth weight. Infants presenting in the first week of life were less likely to respond to diazoxide. At the time of last review, eight (40%) of those treated medically had ceased all treatment. Two of the five cases requiring pancreatectomy now require insulin treatment. Neurodevelopmental assessment was normal in 11 (55%), mild delay was found in six (30%) and moderate or severe delay was found in three (15%)., Conclusions: Persistent hyperinsulinaemic hypoglycaemia of infancy remains a major diagnostic and management challenge. Early suspicion and recognition is critical with definitive investigation and medical therapy to avoid hypoglycaemia, with pancreatectomy in medically unresponsive cases. Normal neurodevelopmental outcome was found in only 55% of cases.

Objective: To examine the growth response over 3 years of growth hormone deficient (GHD) and non-GHD children who have received growth hormone (GH) in Australia., Methodology: A retrospective study of a group of patients (1362 children) who commenced GH prior to 1 September 1990. Data were collected at 12 growth centres located in major cities throughout Australia. The data were transferred after informed consent to the national OZGROW database located at the Royal Alexandra Hospital for Children, Sydney, NSW. Of the 1362 children, 898 had received 3 years or more GH therapy and were eligible for this analysis. This cohort was then categorized by diagnosis. Growth response was assessed using height standard deviation score, estimated mature height, growth velocity (GV), GH dose and bone age (years)., Results: For children who completed 3 years therapy, the baseline characteristics among diagnostic groups were similar with mean height standard deviation score (SDS) less than -3 SDS (except for the malignancy group) and mean GV ranging from 3.5 to 4.4cm/year. The GV during the first year improved in all groups (7.7-9.4cm/year)followed by an attenuated response during the second and third years of therapy. After 3 years GH therapy the GHD group with peak levels <10 mU/L demonstrated the greatest change in estimated mature height and height SDS. The GHD group with peak levels between > or = 10 but <2OmU/L had a growth response similar to the non-GHD children for all outcome parameters. Change in bone age ranged from 3.1 to 3.8 years with no differences being noted between the diagnostic groups, nor consistently with pubertal status., Conclusions: Australian GH guidelines have targeted very short children when compared to other series. This large cohort of non-GHD children has demonstrated short-term benefits of GH therapy; however, the long-term benefit remains unclear until these children reach final adult height.

Objective: The prevalence of cholestatic jaundice as a presenting feature of congenital hypopituitarism is assessed., Methodology: A retrospective case record analysis of the presenting features in all patients diagnosed as having congenital hypopituitarism between 1973-93., Results: Seven of the 20 patients with congenital hypopituitarism presented with cholestatic jaundice as the major initial manifestation of the disorder. Liver biopsy findings in three revealed intracellular bile pigment accumulation and variable giant cell formation., Conclusion: Cholestatic jaundice was the major manifestation of congenital hypopituitarism in 35% of patients presenting in the neonatal or early infancy period.

Five adolescent girls with Turner syndrome (mean age 13.9 years, mean bone age 12.0 years) were treated with both recombinant human growth hormone (rhGH) and oxandrolone for 2 years with an average increment in height of 13.4 cm. The mean bone age advanced by only 1.2 years, providing an increase in the mean estimated mature height of 9.2 cm. We conclude that rhGH and oxandrolone benefit older teenagers with Turner syndrome because of an increased growth rate with slow progression of skeletal maturation.

A multi-centre open trial of Buserelin, a luteinizing hormone-releasing hormone (LHRH) analogue, was conducted in 13 children with central precocious puberty. Eleven children (eight girls and three boys), aged 3.4-10.2 years at commencement, completed the required 12 month period of treatment. Initially all patients received the drug by intranasal spray in a dose of 1200 micrograms/day, but by the end of the 12 month period two were having daily subcutaneous injections and three were receiving an increased dose intranasally. The first month of treatment was associated in one boy with increased aggression and masturbation, and in the girls with an increase in the prevalence of vaginal bleeding. Thereafter, however, both behavioural abnormalities and menstruation were suppressed. Median bone age increased significantly during the study, but without any significant change in the ratio of height age to bone age. The median predicted adult height for the group therefore did not alter significantly over the twelve months of the study. Buserelin treatment caused a reduction in the peak luteinizing hormone and follicle-stimulating hormone (FSH) responses to LHRH, mostly to prepubertal levels, and also suppressed basal FSH. In the first weeks of treatment, the girls' serum oestradiol levels rose significantly and then fell to prepubertal or early pubertal levels. A similar pattern was seen for serum testosterone levels. Serum somatomedin-C levels, however, showed little fluctuation over the course of the study. Buserelin treatment was safe and well accepted, and offers the promise of improved linear growth potential in precocious puberty.