[This corrects the article on p. 432 in vol. 10, PMID: 31333583.
View Article and Find Full Text PDFThe deficiency of 21-hydroxylase due to pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self-esteem. In the most severe cases life-threatening adrenal salt wasting crises may occur. Significant morbidity including the possibility of mistaken gender determination, precocious puberty, infertility and growth arrest with consequent short stature may also affect these patients.
View Article and Find Full Text PDF