Management of 17α-Hydroxylase/17,20-lyase Deficiency

Sex Hormone Replacement Therapy

The Endocrine Society recommends transdermal 17β-estradiol (17βE) administered via patches releasing 50-100 μg/24 hours or vaginal gel (0.5-1 mg daily) for female patients 1, 2
The American College of Obstetricians and Gynecologists suggests adding progestin for endometrial protection: micronized progesterone (MP) 200 mg daily for 12-14 days every 28 days (sequential regimen) or continuous regimen with lower doses 3
For patients requiring contraception, 17βE-based combined oral contraceptives are preferred over ethinylestradiol-based options due to lower cardiovascular risk, as recommended by the American Heart Association 4, 3

Patients with 17α-hydroxylase deficiency have higher cardiovascular risk due to hypertension; transdermal estrogen formulations have a better cardiovascular profile than oral formulations, according to the American College of Cardiology 4
The National Osteoporosis Foundation recommends monitoring bone mineral density as these patients are at risk for osteoporosis due to sex steroid deficiency 1, 3

Bone density measurements to assess for osteoporosis risk are recommended by the National Osteoporosis Foundation 3