Table 3 Characteristics of confirmed cases

M

5y

Subclinical salt wasting

Testosterone 5.1

17HP/(THE + THF + 5αTHF)

1.5

21-hydroxylase deficiency

Tall stature and sexual precocity

17 OHP: 443

PT/(THE + THF + 5αTHF)

1.1

CYP21A2 mutation

Androstenedione NA

PTONE/(THE + THF + 5αTHF)

11.5

THS/(THE + THF + 5αTHF)

0.04

DHEA/(THE + THF + 5αTHF)

0.14

(17HP + PT)/(An + Et)

15.1

(THF + 5αTHF)/THE

16.8

THB/5αTHB

5.3

M

10d

Salt wasting presented with vomiting and weight loss.

17 OHP: NA

17HP/(THE + THF + 5αTHF)

0.2

21-hydroxylase deficiency

Androstenedione NA

PT/(THE + THF + 5αTHF)

0.5

CYP21A2 mutation

PTONE/(THE + THF + 5αTHF)

0.1

THE/(THF + 5αTHF)

62.3

F

13y

Presented at 8 yrs with exaggerated adrenarche. Not salt wasting

17 OHP: 118

17HP/(THE + THF + 5αTHF)

0.3

21-hydroxylase deficiency

Androstenedione 11

PT/(THE + THF + 5αTHF)

0.2

PTONE/(THE + THF + 5αTHF)

0.1

DHEA/(THE + THF + 5αTHF)

0.7

F

3y

Clitoromegaly with no other signs of virilisation. Not salt wasting

17 OHP 80

17HP/(THE + THF + 5αTHF)

18.6

21-hydroxylase deficiency

Androstenedione 30

PT/(THE + THF + 5αTHF)

37.2

CYP21A2 mutation

PTONE/(THE + THF + 5αTHF)

21.6

(17HP + PT)/(An + Et)

36.7

(An + Et)/(THE + THF + 5αTHF)

1.5

F

11y

Premature adrenarche. On steroid replacement. Hypertensive.

17 OHP 3

THS/(THE + THF + 5αTHF)

0.1

11β-hydroxylase deficiency

Androstenedione 13.3

DOC – NA

F

2 m

Clitoromegaly. Hypertensive.

17 OHP: 3

THS/(THE + THF + 5αTHF)

0.6

11β-hydroxylase deficiency

Androstenedione < 1.4

PTONE/(THE + THF + 5αTHF)

0.02

M

8y

Bilateral undescended testes, micropenis.

DHT < 0.1

Nil

5α − reductase deficiency

Parents consanguineous

Androstenedione 1.5

Testosterone 0.7

M

5y

Glandular hypospadias.

DHT < 0.1

THS/(THE + THF + 5αTHF)

0.04

5α − reductase deficiency

Parents consanguineous.

Androstenedione 1.4

Et/An

5.1

Testosterone < 0.5

THF/5αTHF

31.8