An Update on Congenital Adrenal Hyperplasia
December 2004
in “
Annals of the New York Academy of Sciences
”
Congenital Adrenal Hyperplasia CAH CYP21 gene virilization nonclassical 21-hydroxylase deficiency NC21OHD adrenal steroid synthesis cortisol synthesis adrenal overstimulation premature pubic hair development advanced bone age accelerated growth diminished final height severe cystic acne androgen excess glucocorticoid treatment 21-hydroxylase deficiency cortisol glucocorticoids
TLDR Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
The 2004 document provided an update on Congenital Adrenal Hyperplasia (CAH), a genetic disorder caused by mutations in enzymes involved in adrenal steroid synthesis, leading to decreased cortisol synthesis and adrenal overstimulation. Two forms were discussed: the classical form, caused by severe enzymatic defect due to mutations in the CYP21 gene, leading to virilization of female fetuses, and the less severe, late-onset form, nonclassical 21-hydroxylase deficiency (NC21OHD), the most common autosomal recessive disorder in humans. Symptoms of NC21OHD included premature pubic hair development, advanced bone age, accelerated growth, diminished final height, severe cystic acne, and androgen excess symptoms in women. Hormonal and molecular genetic screening could identify undiagnosed patients, who could then receive glucocorticoid treatment to reverse symptoms within 3 months.
