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Enrollment of children in clinical trials raises many ethical and regulatory issues, particularly when there is no prospect of direct benefit to the participant. The author of this Viewpoint discusses the US federal regulatory guidelines and asks whether they offer appropriate access and protection for all participants in pediatric diabetes research.
This Review describes in detail the assessment and management of Graves' ophthalmopathy, a common manifestation of Graves' disease. It describes the role of smoking cessation,131I therapy, immunosuppression and rehabilitative surgery. After severity and activity are assessed, optimal management is multidisciplinary and should be tailored to the individual patient.
Disorders of cortisol biosynthesis can lead to congenital adrenal hyperplasia, the most common form of which is 21-hydroxylase deficiency (21-OHD). This Review details the clinical features and prenatal diagnosis of 21-OHD, and describes how prenatal dexamethasone treatment can prevent genital ambiguity in affected females.
This article reviews the known cases of aromatase deficiency, which causes virilization of affected female fetuses and their mothers. In girls the deficiency causes pseudohermaphroditism at birth, and a lack of transition through puberty. Males are generally diagnosed later in life. This condition shows important roles for estrogen in metabolism of many systems other than reproduction.
Oncogenic mutations associated with childhood thyroid cancers are predominantly gene rearrangements; point mutations are exceedingly rare. As discussed in this article, although no 'signature' pattern of gene mutations has emerged from studies of radiation-induced thyroid cancers, the distribution of certain gene abnormalities displays important correlations with particular clinicopathological features of disease.
Graves' orbitopathy is an inflammatory syndrome that affects orbital tissues in about half of patients with Graves' disease. Therapy should be planned on the basis of disease severity and activity. This case illustrates the therapeutic approach to a patient with severe, active Graves' orbitopathy complicated by optic neuropathy, and discusses treatment alternatives.