Management considerations for the adult with congenital adrenal hyperplasia

• Stepped glucocorticoid therapy is good approach for adults with 21OHD.
• Adrenal-derived androgens and progesterone cause infertility in women with 21OHD.
• Gonadal suppression and adrenal rest tumors cause infertility in men with 21OHD.
• Many patients with nonclassic 21OHD are carriers for classic 21OHD.

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.

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