Genotype-Phenotype Correlation in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency in Cuba

Table 1

Genotype-phenotype correlation in Cuban patients with 21-hydroxylase deficiency.

Molecular findings

Patients, their clinical forms, and gender

P2

P3

P4

P5

P6

P7

P12

P15

P16

P17

SW

SW

SW

SW

SW

SW

SW

SW

SW

SW

F

F

F

M

M^∗

F

F

F

F

M

P30L

Heterozygous

x

Homozygous

Intron 2

Heterozygous

x

x

Homozygous

x

x

x

x

x

Del8bp

Heterozygous

x

x

Homozygous

Q318X

Heterozygous

Homozygous

x

x

I172N

Heterozygous

Homozygous

x

Molecular findings

Patients, their clinical forms, and gender

P20

P21

P22

P23

P24

P25

P28

P29

P30

P33

SW

SW

SW

SW

SW

SW

SV

SV

SV

SV

F

F

F

F

F

F

M

M

F

F

P30L

Heterozygous

Homozygous

Intron 2

Heterozygous

x

x

Homozygous

x

x

x

x

Del8bp

Heterozygous

x

Homozygous

Q318X

Heterozygous

Homozygous

x

x

I172N

Heterozygous

Homozygous

x

Molecular findings

Patients and their clinical forms

P35

P36

P39

P40

P44

P45

P46

P47

P48

P49

SV

SV

SV

SV

SV

SV

SV

NC

NC

NC

F

F

F

F

F

M^∗

M

F

F

F

P30L

Heterozygous

Homozygous

Intron 2

Heterozygous

x

x

x

x

x

Homozygous

Del8bp

Heterozygous

x

Homozygous

Q318X

Heterozygous

x

x

Homozygous

x

x

I172N

Heterozygous

Homozygous

46XX. SW, salt-wasting phenotype. SV, simple virilizing phenotype. 46XX. SV, simple virilizing phenotype. NC, nonclassic phenotype.