CONTEXT Because precocious pubarche (PP) reveals late-onset congenital adrenal hyperplasia (LO-CAH) in 5 to 20% of cases, an adrenal stimulation test is recommended in all patients presenting with it. This test is stressful and expensive, and results are normal in more than 80% of cases. OBJECTIVE Our objective was to identify clinical and plasma predictors of LO-CAH among patients presenting...

BACKGROUND Congenital adrenal hyperplasia (CAH) is an inherited recessive disorder of adrenal steroidogenesis. Past reports suggested that brain white matter could be involved in CAH. OBJECTIVE To detect the presence, and possible changes over time, of brain white matter abnormalities in patients with CAH. DESIGN Neurological examination and brain magnetic resonance imaging (MRI) that were ...

The primary goal of newborn mass screening (MS) for congenital adrenal hyperplasia (CAH) is the prevention of life-threatening salt-wasting crisis in the most severe forms of CAH, and MS for CAH has been implemented in several countries. We summarize here our experience and results from newborn CAH MS from 1982 to 2010 in Sapporo City. During these 28 yr, the level of 17-hydroxyprogesterone (17...

Little is known about the long-term health-related quality of life (HRQL) and mental health outcomes for women diagnosed with congenital adrenal hyperplasia (CAH), a disorder of sex development. Though recommendations for therapists exist, no research has empirically investigated women's experiences in therapy or their recommendations for therapy. Thus the purpose of the study was to investigat...

Cognition in patients with CAH has not been as well studied as other aspects of psychologic function. Nevertheless, it is possible to make some conclusions and to offer a number of hypotheses for further study (Table 1). First, patients with CAH do not seem to have an overall intellectual advantage as a direct consequence of the disease. The high IQs reported in some groups of patients with CAH...

The use of glucocorticoids to treat individuals with congenital adrenal hyperplasia (CAH) was first reported by both Wilkins and Bartter in 1950. Since that time, the care of these patients has improved dramatically, and through the efforts of dedicated medical researchers, it continues to improve today. With early detection by newborn screening, initiation of treatment in infants with salt-was...

Many neonatal screening programs for congenital adrenal hyperplasia (CAH) have been implemented worldwide to detect newborns at risk of salt wasting crisis and prevent incorrect gender assignment in females. The prevalence of CAH ranges between 1 : 23 344 [1] and 1 : 282 [2]. Table 1 illustrates the worldwide prevalence of CAH available in the literature till 2009. The present pilot study was d...

In a population and family study we have examined the relationship between HLA types, classical congenital adrenal hyperplasia (CAH), and variants of 21 hydroxylase (21 OH) deficiency detected by increased blood levels of 17 hydroxyprogesterone (17 PO) in response to ACTH after overnight suppression with dexamethasone ('short Synacthen test'). In a non-CAH population, 7.7% of subjects were foun...

OBJECTIVE Congenital lipoid adrenal hyperplasia (lipoid CAH) results in impairment of adrenal and gonadal steroidogenesis caused by STAR mutations. Our previous study revealed upregulation of genes associated with inflammatory or immune response and macrophage infiltration in the adrenal cortex of Star-knockout mice. This study aimed at investigating macrophage infiltration in the gonads from h...

Photolysis of caged calcium (Nitr5, Calbiochem®) can be used to studycalcium dependent processes such as excitation-contraction coupling andmuscular mechanics. Expensive high energy light sources are routinely used forUV light exposure; this study describes an alternative low cost Xenon flash unitconstmcted in our laboratOlY. A 300 J short arc Xenon flash lamp (Heimarl1l®)wa...