Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

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Brain White Matter Abnormality in a Newborn Infant with Congenital Adrenal Hyperplasia

Several studies have described brain white matter abnormalities on magnetic resonance imaging (MRI) in children and adults with congenital adrenal hyperplasia (CAH), while the brain MRI findings of newborn infants with CAH have not been clarified. We report a newborn boy with CAH who presented brain white matter abnormality on MRI. He was diagnosed as having salt-wasting CAH with a high 17-OHP ...

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Brain white matter impairment in congenital adrenal hyperplasia.

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 ...

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Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

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Newborn screening for congenital adrenal hyperplasia in New York State

From 2007 to 2014 the New York State (NYS) Newborn Screening (NBS) program screened 2 million newborns for congenital adrenal hyperplasia (CAH). The data was analyzed to determine factors that affect 17α-hydroxyprogesterone levels and assist in developing algorithm changes that would improve the positive predictive value of the methodology being used. The concentration of 17-OHP in dried blood ...

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Effect of newborn screening for congenital adrenal hyperplasia.

OBJECTIVE To compare the incidence of diagnosis and morbidity in newborns who were screened with newborns who were not screened for congenital adrenal hyperplasia (CAH). DESIGN A retrospective cohort study. SETTING Arkansas, Oklahoma, and Texas. PATIENTS An unscreened population in Arkansas and Oklahoma (n = 400118) was compared with a screened population in Texas (n = 1613378) during a 5...

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ژورنال

عنوان ژورنال: Clinical Pediatric Endocrinology

سال: 2013

ISSN: 0918-5739,1347-7358

DOI: 10.1297/cpe.22.77