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Congenital adrenal hyperplasia
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Based in New Jersey, James Raphalian is a retired finance industry executive who served as senior managing director with Schwab Capital Markets. Reflecting a strong community involvement, James Raphalian has spearheaded a fundraiser for the Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation and provides the nonprofit with ongoing financial advice. Congenital adrenal hyperplasia (CAH) is a grouping of inherited, autosomal recessive disorders involving mutations in the adrenal glands and resulting in high male hormone levels and low cortisol levels. There are two basic types of CAH, with the most common “classic CAH” related to 21-hydroxylase deficiency and grouped into two further subtypes. The most severe classic form is “salt-wasting CAH,” in which the adrenal glands do not produce enough aldosterone, which results in the body not retaining sufficient sodium. This condition typically occurs shortly after birth and if undiagnosed can result in death of the infant. Among the symptoms are dehydration, low blood pressure, diarrhea, and poor feeding. Even with treatment, children with salt-wasting CAH may experience adrenal crises at times of stress or illness. For this reason, adrenal hormone medications may need to be increased at times and careful monitoring is necessary. By contrast, non-salt wasting (simple virilizing) CAH is more moderate, with the aldosterone deficiency less severe and thus not life threatening to newborns. Nonclassic CAH also has mild 21-hydroxylase deficiency as a cause, with the symptoms typically appearing in childhood, adolescence, and the early adult years. Among the symptoms related to elevated androgens are early signs of puberty. Rapid growth may be experienced in the early teens, though the patient will be shorter than the parents at maturity.
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Based in New Jersey, James Raphalian is a retired finance industry executive who served as senior managing director with Schwab Capital Markets. Reflecting a strong community involvement, James Raphalian has spearheaded a fundraiser for the Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation and provides the nonprofit with ongoing financial advice. Congenital adrenal hyperplasia (CAH) is a grouping of inherited, autosomal recessive disorders involving mutations in the adrenal glands and resulting in high male hormone levels and low cortisol levels. There are two basic types of CAH, with the most common “classic CAH” related to 21-hydroxylase deficiency and grouped into two further subtypes. The most severe classic form is “salt-wasting CAH,” in which the adrenal glands do not produce enough aldosterone, which results in the body not retaining sufficient sodium. This condition typically occurs shortly after birth and if undiagnosed can result in death of the infant. Among the symptoms are dehydration, low blood pressure, diarrhea, and poor feeding. Even with treatment, children with salt-wasting CAH may experience adrenal crises at times of stress or illness. For this reason, adrenal hormone medications may need to be increased at times and careful monitoring is necessary. By contrast, non-salt wasting (simple virilizing) CAH is more moderate, with the aldosterone deficiency less severe and thus not life threatening to newborns. Nonclassic CAH also has mild 21-hydroxylase deficiency as a cause, with the symptoms typically appearing in childhood, adolescence, and the early adult years. Among the symptoms related to elevated androgens are early signs of puberty. Rapid growth may be experienced in the early teens, though the patient will be shorter than the parents at maturity.
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