Table 2.

Summary of CYB5A Cases

	Hegesh et al, 1986 [2]	Kok et al, 2010 [3]	Idkowiak et al, 2012 [4]	Idkowiak et al, (Sib 1) [4]	Idkowiak et al, (Sib 2) [4]	Yeung et al, 2014 [5]	Current Case
Age of presentation	7 days	0 day	0 day	13 years	0 day	0 day	13 years
Ethnicity	Jewish	Netherlander	Pakistani	Pakistani	Pakistani	Chinese	Chinese
Symptoms	Cyanosis, pseudohermaphrodite	Ambiguous genitalia	Ambiguous genitalia	Absent puberty, cliteromegaly	Ambiguous genitalia	Ambiguous genitalia	Cyanosis
Rearing gender	Female	Male	Male	Female	Male	Female	Female
Karyotype	46 XY	46 XY	46 XY	46 XY	46 XY	46 XY	Not done
Biochemical findings	Not mentioned	Isolated 17,20-lyase deficiency	Isolated 17,20-lyase deficiency	Isolated 17,20-lyase deficiency	Isolated 17,20-lyase deficiency	Isolated 17,20-lyase deficiency	Isolated 17,20-lyase deficiency
Genetic analysis	Homozygous splicing 16-bp deletion	Homozygous nonsense p.W27X mutation	Homozygous missense p.H44L mutation	Homozygous missense p.H44L mutation	Homozygous missense p.H44L mutation	Homozygous nonsense p.Y35X mutation	Homozygous nonsense p.Y35X mutation
Methemoglobin level	19%	0.061 mmol/mol Hb (<0.015)	0.063 mmol/mol Hb (<0.015)	0.061 mmol/mol Hb (<0.015)	0.085 mmol/mol Hb (<0.015)	7.7% (<0.5%)	13.4% (<1.5%)

Abbreviation: Hb, hemoglobin.