While there are many grades of CAH severity, they all involve excess androgens (male sex hormones like testosterone). Up to 95% of CAH cases involve a 21-hydroxylase deficiency, a key enzyme for ...

Reporting clinicians completed clinical questionnaires. Setting England, Wales and Scotland. Results 144 children with CAH were reported, of whom 132 (92%) had 21-hydroxylase deficiency. Thirty-six ...

Signs of androgen excess distinguish the two disorders; 11β-hydroxylase deficiency causes virilization ... AME = apparent mineralocorticoid excess; CAH = congenital adrenal hyperplasia; DOC ...

This stimulates biosynthesis of the adrenocortical androgens, which are independent of 21-hydroxylase, with an accumulation ... are virilised during foetal life (1). Non-classical congenital adrenal ...

In this Review, we discuss several challenges faced by adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, and provide guidance to health-care professionals in helping ...

Inborn errors of steroidogenesis associated with congenital adrenal hyperplasia are discussed, with a particular focus on the pathophysiology and clinical features of 21-hydroxylase deficiency. The ...

The results of a new investigation cast doubt on the recommendations on gender assignment for a subgroup of 46,XX patients with 21-hydroxylase congenital adrenal hyperplasia (CAH) and Prader 4 or ...

aSchool of Medicine and Population Health, University of Sheffield, Sheffield, United Kingdom bSchool of Electrical and Electronic Engineering, University of Sheffield, Sheffield, United Kingdom ...

Phenylalanine hydroxylase (PAH) is the enzyme which converts phenylalanine into tyrosine. In case of its deficiency, hyperphenylalaninemia is observed, which leads to phenylketonuria (PKU), a ...

At a time when political and other divisions seem sharper than ever, there’s something comforting in a book about reconciliation topping the non-fiction list. David A. Robertson‘s “52 Ways ...