Table 3.

Gene testing results in case reports/series confirmed with CYP21A2 deficiency and adrenal tumours/masses (the display starts with the earliest publication date) [50,51,52,53,54,55,56,57,58,59,60,61,62,63,64,65,66,67].

Reference	Genetic Testing Results
[50]	Compound heterozygote p.E351V, p.I236N, p.V237E, and p.M239K genetic variants in the CYP21A2 gene
	IVS2-13A/C>G/p.I172N
[51]	V281L and I172N
	V281L
	V281L/V281L
	I172N
	I172N/deletion
[52]	Biallelic micro-conversion between the promoter regions of CYP21A2 and the pseudogene CYP21A1
[53]	Compound heterozygous genetic variants: Pro30Leu genetic variant on one allele and a novel heterozygous duplication (c.264_276dup (p.Glu93Cysfs*5)) on the second allele
[54]	Homozygous g.656A/C>G point genetic variant
[55]	Compound heterozygous genetic variants: c.518T>A (p.Ile173Asn) and c.710T>A, c.713T>A, c.719T>A (p.lIe237Asn), (p.Val238Glu), (p.Met240Lys)
[56]	Complete gene deletion on one allele and a C518T>A (I172N) genetic variant on the other
[57]	Compound heterozygous p.Ile172Asn, p.Arg483Pro, and p.Met485Trpfs*56 genetic variants
[58]	Heterozygosity for intron 2 IVS2-13A/C>G splice site genetic variant/p.R483P (c.1451_1452 deletion insertion of C)
[59]	Micro genetic variant I172N and heterozygous large gene deletion or conversion
[60]	Compound heterozygous genetic variant: c.293-13C>G and c.518T>A, p.I173N
	Compound heterozygous genetic variant: c.293-13C>G and c.518T>A, p.I173N
[61]	IVS2-13A/C>G and p.I173N
[62]	Compound heterozygous R356W and intron 2G genetic variant
[63]	Variant g.655C>G
[64]	Heterozygosity: p.Gln318Ter (Q318) and p.Gly110ValfsTer21 (Del8bpE3)
	Homozygous genetic variant c.293-13C>G
	p.Ile172Asn (p I172N) and Del/Conv
[65]	Gln318stop/deletion in the CYP21A2 gene
[66]	c.293–13C>G genetic variant on both alleles
[67]	Compound heterozygous genetic variant c.293-13C>G and c.518T>A, p.I173N
	Compound heterozygous genetic variant c.293-13C>G and c.518T>A, p.I173N