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.
Highlights
Congenital Adrenal Hyperplasia (CAH) is the largest classified group in Disorders of Sexual Developments (DSDs)
Genetic alteration causing Disorders of Sexual Development (DSD) was analyzed using a customized gene panel designed with the Ion AmpliSeq Designer software that included all exons and exonintron boundaries of the selected 48 genes (Table 1)
Variants were filtered to include those with a p-value
Summary
Congenital Adrenal Hyperplasia (CAH) is the largest classified group in Disorders of Sexual Developments (DSDs). CAH has two forms; the severe classical /salt wasting (SWCAH) and the milder non-classical/ simple virilizing (SVCAH). Both forms are caused by deficient or decreased cortisol biosynthesis [1 - 4]. Inefficient cortisol biosynthesis leads to increased production of corticotrophin-releasing hormone, adrenocorticotropic hormone and hyperplasia of the adrenal glands. This leads the adrenals to produce excessive amounts of androgens as early as 6–7 weeks of gestation [5 7]. Individuals with CAH have a deficiency in 21-hydroxylase enzyme (21-OHD) [11] This enzyme, encoded by the CYP21A2 gene [12 - 20] is mutated in 95% of CAH cases [21 23, 15] and is located within the HLA region of the short arm. Previous studies have shown that p.Q318Y and p.R356W had 0% enzyme activity, while c. 293-13A/C>G and p.I172L presented minimal residual activity and were associated with the classic form of the syndrome [31]
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