Table 4.

Analysis of heterozygous patients with 21-hydroxylase deficiency and their families

Genotype	Sex	Transmission/ Mutation	Clinical expression	Age at diagnosis
Intron 2, Del 8pb and P30L	Ma	Maternal	Virilization of external genitalia Polyuria/Polydipsia. Insipidus diabetes Dehydration episode	2 years
Intron 2	F	Maternal	Virilization of external genitalia	30 days
Hetero G318X and I172N	F	Maternal/ Heterozygous I172N Paternal Heterozygous G318X	Virilization of external genitalia	3 years
Hetero Intron 2 and 8pb	M	Maternal/ Heterozygous Intron 2 Paternal Heterozygous P30L	Macrogenitosomy	3 years
G318X and I172N	M	Maternal	Macrogenitosomy Scrotal hyperpigmentation	41 days
G318X	F	Paternal	Virilization of external genitalia	First year
G318X	F	Maternal	Early adrenarche	6 years
G318X	F	Maternal	Dehydration episode Virilization of external genitalia	7 days
G318X	F	Paternal	Precocious pubarche	5 years
G318X	F	Paternal	Precocious pubarche	6 years

^a 46XX karyotype, assigned as male from birth. F Female, M Male