The Open Pediatric Medicine Journal

2019, 9 : 7-11
Published online 2019 December 31. DOI: 10.2174/1874309901909010007
Publisher ID: TOPEDJ-9-7

CASE REPORT
 Simple Virilizing Congenital Adrenal Hyperplasia: A case Report of Sudanese 46, XY DSD male with G293D variant in

Mona Ellaithi1, * , Idoia Martinez de LaPiscina2 , Ana Belen de La Hoz2 , Gustavo Perez de Nanclares2 , Marwah Abdelrahman Alasha3 , Maisa Aldai Hemaida3 and Luis Castano2

*Address correspondence to this author at the Department of Faculty of Medical Laboratory Sciences, , , ; E-mail: mona.ellaithi@gmail.com

ABSTRACT

Congenital Adrenal Hyperplasia (CAH) is a family of inherited disorders that constitute the largest group of Disorders of Sexual Development (DSDs). The classical CAH has two types; the salt-wasting (SW-CAH) and the simple virilizing (SV-CAH). This study is a report of an SV-CAH regarding 46, XY DSD Sudanese male with early signs of puberty at the age of six years.

We designed a customized panel that included 48 genes associated with Disorders of Sexual Development (DSDs) and using Next Generation Sequencing (NGS) technology, detected the pathogenic G293D alteration in the CYP21A2 gene. This variant has been reported in the salt-wasting (SW) form of 46, XX CAH.

Keywords:

Congenital adrenal hyperplasia, CAH, Simple virilizing (SV) salt wasting (SW), Next Generation Sequencing (NGS), Early puberty, Disorders of sexual development (DSDs).