Skip to content
logo
  • Home
  • Plans packages
  • Dashboard
  • Home
  • Plans packages
  • Dashboard
My Account

A neonate is born with ambiguous genitalia, craniosynostosis, midface hypoplasia, and humeroradial synostosis. The mother reports developing acne and hirsutism during the second half of the pregnancy. Laboratory evaluation of the infant reveals elevated pregnenolone and progesterone, with evidence of both partial 17-hydroxylase and 21-hydroxylase deficiency. Pathogenic variants in which gene are responsible for this syndrome?

All rights reserved