Dr. Ron’s Research Review – November 24, 2010

This week’s research review contains excerpts from articles on 21-hydroxylase deficiency.

21-hydroxylase deficiency

One percent of the general population is said to have non-classic 21-hydroxylase deficiency (NC21OHD). (New 2006)

The clinical symptoms of non-classic adrenal hyperplasia are identical with polycystic ovary syndrome (PCOS). (Fanta, Cibula et al. 2008)

Although hyper-androgenic signs in NC21OHD are not fatal, they do cause anguish in many patients: severe acne in adolescents is often disabling, causing young patients to withdraw from social function. Loss of scalp hair in females and males is embarrassing, requiring treatment with 5alpha-reductase inhibitors and other hair-restoring treatments. Hirsutism, requiring shaving in women, is unacceptable to women who then undergo new treatments such as laser and depilatory treatment at great expense. (New 2006)

Although the NC21OHD adrenal crisis is considered theoretical, a recent case report described a patient that was admitted for the treatment of Graves' hyperthyroidism and was found to be unconscious in the hospital. Thyroid hormones accelerate glucocorticoid turnover, which unmasks Addison’s disease or subclinical adrenocortical disease. In this case, thyroxine precipitated an adrenal crisis in a patient with nonclassic 21-hydroxylase deficiency. (Takasu, Nakachi et al. 2010)

In autoimmune adrenal deficiency, auto-antibodies target the 21-hydroxylase (21OH) protein. (Rottembourg, Deal et al. 2010)

A review article on 21-Hydroxylase Deficiency is now included in the Hormone Handbook on Dr. Wright’s Research Site.