Published in:
01-12-2019 | Ultrasound | Research Letter
An unusual epididymal localization of Testicular Adrenal Rest Tumor in an adolescent with congenital adrenal hyperplasia
Authors:
Domenico Corica, Antonio Bottari, Tommaso Aversa, Danilo Caudo, Karol Galletta, Martina Francesca Micalizzi, Giovanni Battista Pajno, Malgorzata Wasniewska, Giorgio Ascenti
Published in:
Endocrine
|
Issue 3/2019
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Excerpt
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, affecting adrenal cortex steroid synthesis, caused by 21β-hydroxylase (21-OH) deficiency in more than 90% of the cases [
1]. The specific mutation of CYP21 gene determines the degree of impairment of 21-OH activity and different phenotypes of CAH: salt-wasting (SW), simple virilizing (SV) and late onset (LO). …