NCAH Affected Embryo
CAH (V282L/V282L) – would you transfer an affected male embryo?
My husband and I are both carriers of non-classic congenital adrenal hyperplasia (21-hydroxylase deficiency) with the same variant: c.844G>T (p.V282L) (formerly called V281L).
We recently went through IVF with PGT-M and have a male embryo that is affected by NCAH. We’re trying to decide whether to transfer him, and we’ve received very mixed opinions from doctors and from people online.
Some physicians have told us that many males with this genotype have few or even no symptoms and may never know they have NCAH unless they’re tested. On the other hand, I’ve read posts from affected men who describe struggles with things like:
- Poor muscle recovery after exercise
- Difficulty handling physical or emotional stress
- Fatigue
- Depression and anxiety
- Other quality-of-life issues
I’m hoping to hear from men or parents of males who have confirmed non-classic CAH V282L/V282L (c.844G>T) genotype.
Thank you so much.