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Biomedical subjects

F J Cameron

Publications and source records attributed to F J Cameron.

36 records · Page 2Linked to original sources
PubMed1999

Growth failure and pituitary function in CHARGE and VATER associations.

Growth failure and anterior pituitary dysfunction are clinical features of the CHARGE and VATER associations. This study investigated pituitary dysfunction as a potential cause of poor growth in a series of four and three patients with the CHARGE and VATER associations, respectively, who had height standard deviation scores (SDS) less than-2. Five of the seven patients had associated subnormal growth velocity SDS. Patients were investigated with a combination of dynamic and basal endocrine tests. All patients were found to be normonatraemic and to have normal basal thyrotroph and stimulated corticotroph function. The one peripubertal patient had evidence of biochemical gonadotroph dysfunction. Although two patients had marginally low stimulated serum growth hormone responses to glucagon stimulation testing, this was associated with either normal growth velocity or normal serum insulin-like growth factor binding protein 3 (IGFBP-3) concentrations. Thus, somatotroph dysfunction could not be demonstrated unequivocally in any patient. Poor childhood linear growth in the CHARGE and VATER associations does not appear to be associated with pituitary dysfunction.

Abnormalities, Multiple↗
PubMed1997

Insulin-dependent diabetes mellitus presenting with ketoalkalosis in Rett syndrome.

A 9-year-old girl with Rett syndrome presented with typical symptoms of insulin-dependent diabetes mellitus. Upon investigation she was found to have a primary respiratory alkalosis associated with diabetes ketoacidaemia. Once non-ketotic normoglycaemia was achieved her respiratory alkalosis persisted. This was felt to be due to an abnormal breathing pattern of hyperventilation punctuated by apnoeas which is associated with Rett syndrome.

Alkalosis↗
PubMed1997

Familial Cushing's disease with severe weight loss occurring in late childhood.

We describe a rare case of familial Cushing's disease occurring in a 7-year-old boy, and 19 years of follow up. Our patient first presented soon after his maternal aunt had been treated for Cushing's disease. The clinical presentation was made complicated by the development of an intercurrent eating disorder resembling anorexia nervosa. This resulted in marked weight loss, and even though serum and urinary cortisol levels were elevated, many of the clinical stigmata of Cushing's disease were absent. Eating disorders are relatively uncommon in boys, and in this case there was an organic cause for the abnormal behaviour. This case shows, furthermore, that even the obesity of Cushing's disease can be overcome by the combination of diet and exercise.

Adult↗
PubMed1997

Steroid 17alpha-hydroxylase deficiency: first Australian case report.

17alpha-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) that affects both glucocorticoid and sex hormone biosynthesis. We report a case of an unambiguous female with testes and hypertension. She was found to have deficient 17alpha-hydroxylase activity. The diagnosis was not made easily, the condition being unexpected due to its rarity. The discriminating feature of this form of sex-reversal is the presence of hypertension due to the elevated serum deoxycorticosterone levels. A failure to detect this will inappropriately focus attention on other, more common causes of sex reversal such as androgen insensitivity and gonadal dysgenesis, and expose the patient to the long-term sequelae of uncontrolled arterial hypertension.

Adrenal Hyperplasia, Congenital↗
PubMed1997

Precocious pseudopuberty due to a granulosa cell tumour in a seven-month-old female.

We describe a juvenile granulosa cell tumour resulting in pseudopuberty in an infant female. The progression of the clinical signs of puberty were non-consonant and the diagnosis was complicated by marginally elevated serum alpha-fetoprotein levels. The histological appearance of the resected tumour and binding of MIC2 antibody to tumour cells confirmed the diagnosis.

Diagnosis, Differential↗
PubMed1997

The significance of hepatic lesions associated with small adrenocortical tumours in childhood.

Small adrenocortical tumours in children are rarely associated with hepatic pathology. We present two case reports of children with hepatic pathology associated with small adrenal tumours on computed tomography. One child had multiple granulomatous lesions due to toxocariasis and the other had focal nodular hyperplasia. Hepatic lesions seen in association with small adrenal tumours in childhood may represent coincidental rather than metastatic pathology.

Adenoma↗
PubMed1997

Gonadal dysgenesis: associations between clinical features and sex of rearing.

The purpose of this study was to review the phenotypic and endocrine features or a series of patients with ambiguous genitalia or sex-reversal due to gonadal dysgenesis (GD) and to analyse the impact of these on the decision about sex of rearing. This study is a retrospective analysis of 22 patients with GD treated between 1964 and 1994. We assessed external genitalia, internal genitalia, internal genital structures, gonadal morphology (n = 22), basal and human CG (hCG) stimulated serum testosterone levels (n = 11) and serum gonadotropin levels (n = 13) in patients with GD. Basal and hCG stimulated testosterone levels were also measured for 43 control patients. There were no significant associations or correlations between internal or external genital phenotype, endocrine function and gonadal morphology. There was a significant association between sex of rearing and external genitalia (P = 0.03). Patients with gonadal dysgenesis had significantly lower stimulated/basal testosterone levels than the controls (P = 0.0001). Given that the clinical features of various forms of GD overlap considerably, gonadal biopsy should remain the investigation of choice when attempting to define the pathology.

Adolescent↗
PubMed1996

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal.

Mutations in the gene SOX9 result in the syndrome of campomelic dysplasia (CD) which includes sex-reversal in 75% of 46,XY affected individuals. These mutations only affect a single allele of SOX9 suggesting a dominant mode of inheritance for this syndrome. Consequently, CD and autosomal sex reversal may result from haploinsufficiency of SOX9. The SOX9 gene maps to the long arm of human chromosome 17 and translocations in this region also result in CD. We report a family in which there were three affected patients, two of whom showed 46,XY sex-reversal. Interestingly, despite all three patients being heterozygous for a familial mutation in SOX9 (Insertion of a cytosine residue at nucleotide position 1096), their gonadal phenotypes varied widely. The proband was found to have 46,XY true hermaphroditism with ambiguous genitalia. The other two sibs were 46,XY and 46,XX, and both had bilateral ovaries with normal female genitalia. The somatic cells in both parents revealed wild-type SOX9 nucleotide sequences. However, mutational analysis of the SOX9 gene in the father's germ cells revealed they were mosaic for mutant and wild-type sequences. This family is particularly informative as it demonstrates that the same SOX9 mutation can produce very different 46,XY gonadal phenotypes. The range of gonadal morphologies observed may be explained by several possible mechanisms such as variable penetrance of the mutation, increased activity of the non-mutant SOX9 allele or stochastic environmental factors. These results also demonstrate that paternal germ cell mosaicism of a mutant SOX9 sequence can result in a CD phenotype amongst his offspring.

Disorders of Sex Development↗
PubMed1996

Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.

The symptoms, auxological characteristics, and stimulated 17-hydroxyprogesterone (17-OHP) concentrations in a group of patients with non-classical 21-hydroxylase deficiency (NCCAH) were compared with those of their siblings. Ten index cases consisting of nine females and one male patient aged 3-33 years and 16 siblings were studied. In the sibling group five subjects were slightly virilised and of these, two females were found to have NCCAH according to their stimulated 17-OHP concentrations. The remaining nine siblings, who were not virilised, all had normal stimulated 17-OHP concentrations. Among the total NCCAH group (index cases and affected siblings) eight patients had the diagnosis made within two years of the onset of symptoms. In four patients diagnosis was delayed until adulthood. In seven patients investigated, bone age was significantly increased before treatment. The mean height and body mass index Z scores of the affected patients as a total group or when divided according to skeletal maturity were not significantly different from either the normal mean or from their unaffected siblings. Virilised siblings of patients with NCCAH should have stimulated 17-OHP levels measured to exclude the disease. Patients with NCCAH do not appear to be at risk of short adult stature despite increased bone age in childhood.

17-alpha-Hydroxyprogesterone↗
PubMed1995

Bone mineral density and body composition in congenital adrenal hyperplasia.

The purpose of this study was to assess whether replacement doses of glucocorticoid hormones administered to patients with congenital adrenal hyperplasia (CAH) cause changes in body composition, including either generalized or regional osteoporosis. In 21 patients with 21-hydroxylase deficiency we measured height, body mass index, lean mass, fat mass, and whole body and regional bone mineral density (BMD). We measured the same parameters in 21 age- and sex-matched control patients. The CAH group (aged 8-32 yr) showed significantly reduced mean height compared with both standard data (P = 0.0015) and the control group (P = 0.009). There were no significant differences in mean body mass index between the CAH group and the standard data (P = 0.13) or the control group (P = 0.87). CAH males had significantly higher fat/lean mass ratios than control males (P = 0.005). There were no significant differences in whole body mean bone mineral apparent density values between the CAH and control groups (P = 0.39). There were, however, significant differences in whole body BMD z scores between the CAH and control groups and the reference data (P = 0.027 and P = 0.004, respectively). No significant differences were observed between the total CAH and control groups with respect to spinal bone mineral apparent density; however CAH males had significantly lower mean adjusted spinal BMD than the male controls (P = 0.02). We conclude that although replacement therapy with glucocorticoid and mineralocorticoid hormones in our group of CAH patients may not be optimal with regard to longitudinal growth, it is not deleterious in terms of general bone mineralization. It may decrease spinal BMD in CAH males. We also conclude that the relevance of Hologic reference data for BMD to an Australian population is uncertain, and there is a need for Australian standard data.

Absorptiometry, Photon↗
PubMed1986

Nutrition of aboriginal infants and children in the Murray Valley.

A cross-sectional anthropometric study of 297 Aboriginal children aged from 0 to 11 years, from four communities in the Murray Valley region of north-western Victoria and south-western New South Wales, revealed significant levels of growth retardation compared with 146 local non-Aboriginal children. Mild, moderate and severe levels of malnutrition (according to anthropometric criteria) and high proportions of infants who were small for gestational age were found among the Aboriginal children. Levels of moderate malnutrition varied from 11% to 26% according to the standards of housing, the degree of community organization and the social pressures that were experienced by each community. The implications of these findings are discussed in terms of Aboriginal participation in primary health care.

Australia↗
PubMedDate not supplied

A comparison between optimal and actuarial health care costs of adolescents with diabetes.

OBJECTIVE: To assess actuarial cost and cost of optimal standards of care for adolescents with type 1 diabetes in a tertiary, hospital-based care setting. To also assess actuarial costs of diabetic adolescents in psychosocial crisis. METHODS: Contact diaries were maintained over a 1-year period (June 1999-June 2000). Contacts recorded included both structured and non-structured clinical encounters with contact times recorded. In addition, optimal or 'ideal' hospital-based support and contact times for adolescents were estimated and recorded in minutes per year. Three illustrative cases of adolescents in psychosocial crisis were also assessed in terms of actuarial health care professional contact times. Costs were then calculated according to Victorian hospital pay structures per professional for 1999-2000. RESULTS: The mean and median actuarial costs of caring for patients aged between 10 and 19 years were 1307 Australian dollars per year and 515 Australian dollars per year, respectively. The cost of optimal care for an adolescent was estimated at 2817 Australian dollars per year after the first year of diagnosis. The costs per year of the three adolescents in crisis ranged from 10,137 Australian dollars per year to 30,524 Australian dollars per year. CONCLUSIONS: Cost benefits may be seen in the short term by reducing the number of adolescents who end up in psychosocial crisis. Current actuarial costs of diabetic care for adolescents falls short of an optimal standard of care. Diabetic adolescents who fall into psychosocial crisis consume a disproportionate share of a limited clinical resource.

Actuarial Analysis↗
PubMedDate not supplied

Maturity-onset diabetes of the young (MODY): three case reports and new perspectives.

Maturity-onset diabetes of the young (MODY) is a rare form of juvenile diabetes mellitus that presents with hyperglycaemia in the absence of ketosis. We present three cases of MODY, all of whom had pedigrees with diabetics in multiple generations. All our patients presented in adolescence with evidence of insulin resistance. Two patients were relatively overweight. All three patients were readily controlled on diet alone. None had any clinical evidence of diabetic complications in early adulthood. Recently there has been a marked increase in our understanding of MODY. Genetic linkage and mutational analyses have identified three subtypes (MODY1, 2 and 3) that are all transmitted in an autosomal dominant fashion. The pathophysiology of the MODY subtypes is variable with both increased and decreased insulin levels being seen. A failure to recognise MODY will result in a lack of appropriate therapy and the potential for diabetic complications.

Blood Glucose↗