Abstract:
:The congenital adrenal hyperplasias (CAH) are a group of genetic defects in cortisol biosynthesis, most commonly steroid 21-hydroxylase deficiency (21OHD). With the advent of cortisone therapy in the 1960s and newborn screening in the 1990s, most children with 21OHD now reach adulthood. The needs and concerns of adults with 21OHD overlap with those of children, but the focus and approach shift as these patients reach adulthood. Cohort studies suggest that adults with 21OHD experience significant health concerns such as infertility, obesity, short stature, neoplasia, and bone loss, as well as reduced quality of life. Nevertheless, the spectrum of health status and disease severity is broad, but only some of the reasons for these disparities are known. This review will summarize the current state of knowledge and suggested approaches to management adults with classic 21OHD, plus a few major considerations for adults with nonclassic 21OHD.
journal_name
Mol Cell Endocrinoljournal_title
Molecular and cellular endocrinologyauthors
Auchus RJdoi
10.1016/j.mce.2015.01.039subject
Has Abstractpub_date
2015-06-15 00:00:00pages
190-7eissn
0303-7207issn
1872-8057pii
S0303-7207(15)00063-5journal_volume
408pub_type
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