Affiliation:
1. Institute of Endocrinology, Sheba Medical Center Tel‐Hashomer Israel
Abstract
AbstractA young couple applied for preconception counseling because of a case of congenital adrenal hyperplasia in the family. They were concerned about their risk of giving birth to a child with classic congenital adrenal hyperplasia. The case presented here demonstrates the complexity of the genetics of 21‐hydroxylase deficiency and the way the clinical presentation should guide the genetic inquiry.
Subject
Genetics (clinical),Genetics