Diagnosis and treatment of endocrine comorbidities in patients with cystic fibrosis.

PURPOSE OF REVIEW: The aim of this review is to provide an update on various relevant endocrine aspects of care in adolescents and adults with cystic fibrosis. RECENT FINDINGS: As life expectancy in cystic fibrosis has continuously improved, endocrine complications have become more apparent. The common endocrine complications include cystic fibrosis related diabetes, cystic fibrosis related bone disease, vitamin D deficiency and poor growth and pubertal development. Thyroid and adrenal disorders have also been reported, although the prevalence appears to be less common. SUMMARY: Endocrine diseases are an increasingly recognized complication that has a significant impact on the overall health of individuals with cystic fibrosis. This review summarizes the updated screening and management of endocrine diseases in the cystic fibrosis population.

Performance of WHO growth standards on Indian children with growth related disorders.

OBJECTIVE: To assess performance of WHO 2006 standards on anthropometric measurements of children referred for growth related disorders to a speciality pediatric clinic in Pune, India, from June 2006 through June 2010. METHODS: Data presented in this study were collected retrospectively from case records of all children from birth to 60 mo (n=1840, mean age 2.7±1.3 y) who presented with growth related disorders; healthy age and sex matched children were recruited as controls (n=824, mean age 2.8±1.2 y). Children were divided as per their clinical diagnosis into eight different groups: growth hormone deficiency, bone disorders, syndromic short stature, familial short stature, hypothyroidism, nutritional and systemic disorder, other endocrinopathies and overgrowth disorders. Anthropometric parameters for all study subjects were converted to standard deviation scores (SD scores) using the WHO Anthro 2005. RESULTS: Mean height SD scores of children with growth related disorders were significantly lower than that of the controls, while that of the tall children were significantly higher (p<0.05). All children who were clinically very short were below the 1st percentile, while none of the children with overgrowth or normal children were classified as stunted. Weight for height SD scores of children with nutritional and systemic disorders were the lowest, while those for the obese children were the highest. CONCLUSIONS: The present results suggest that the WHO 2006 growth standards classify children with growth disorders appropriately and the classification is in concordance with the clinical assessment. They provide health practitioners in a clinical setting with an effective tool to assess growth of children.

Polyostotic fibrous dysplasia with gigantism and huge pelvic tumor: a rare case of McCune-Albright syndrome.

We report a rare case of polyostotic fibrous dysplasia on endocrine hyperfunction with elevated human growth hormone and normal serum level of prolactin. There were some differential points of gender, gigantism, endocrine function, and GNAS gene from McCune-Albright syndrome. Malignant transformation was suspected in the pelvic tumor from imaging because rapid growth of the tumor by imaging was observed; however, no malignant change occurred in this case.

'Old' bones in young bodies: the tale of cystic fibrosis.

PURPOSE OF REVIEW: Cystic fibrosis (CF) is the most common genetic disease within the white population and leads to premature respiratory failure. Approximately, 60 000 individuals are currently living with CF in North America and Europe, almost half of whom are adults. RECENT FINDINGS: Dozens of studies across the globe indicate that CF adults have low bone density and increased rates of fractures. This genesis of the problem appears to be in late childhood to adolescence. SUMMARY: Prevention and treatment of CF-related bone disease must address the myriad risk factors (decreased absorption of fat-soluble vitamins due to pancreatic insufficiency, altered sex hormone production, chronic lung infection with increased serum levels of proinflammatory, bone-active cytokines, malnutrition and low body weight, physical inactivity and glucocorticoid therapy) for poor bone health. This review will address the pathogenesis, diagnosis and treatment of bone disease in CF. It will also discuss best practice guidelines for optimizing bone health in patients with CF.

[Osteoporosis and metabolic bone diseases; clinical relationship]. / Osteoporose und metabolische Osteopathien: Klinische Relationen.

Metabolic bone diseases with disturbed bone remodeling lead to loss of biomechanical quality and atraumatic fractures. Differential diagnosis, prevention and adequate treatment should already start early in the course of these disorders to prevent fractures. Thus, clinical osteology is more than the simplified connection "low bone mineral density--fractures--osteoporosis". This review summarizes physiological relations between bone tissue and calcium homoeostasis as well as the relation between structure and function. In addition, the main metabolic osteopathies "osteoporosis, primary hyperparathyroidism and osteomalacia" are presented from a clinical point of view. The importance and the diagnostic values of biochemical parameters and of the transiliacal biopsy are discussed. In this respect the quantitative measurement of the mineralization density (bone mineral density distribution = BMDD) seems to be of high value and extends the well established bone histomorphometry. This recently introduced method has the power to distinguish between small differences in the degree of mineralization of the matrix with high precision and reproducibility. The results of quantitative backscattered electron imaging in the scanning electron microscope improve the differential diagnosis of bone diseases with alterations in mineralization density, helps to detect mixed etiology (e.g. osteoporosis plus osteomalacia) and facilitate decision making for treatments. The value of biochemical, radiological, osteodensitometric and histopathological tests for diagnosis and treatment depends on the knowledge of the clinical relations and the complex interactions between calcium-, phosphate- and bone metabolism.