Indications directory

Newly born and children:

Clinical presentation: Pseudohermaphroditism feminus, macrogenitosemia, exsiccosis and vomiting, precocious puberty, hypogonadotropic hypogonadism. Likelihood of the homozygous type 1:5000 to 1:10.000, of the heterozygous type 1:30 to 1:100.

21-hydroxylase-deficiency (virilization with and without salt-loss): 17-OH-progesteron (­↑ bis ↑↑), testosterone, renin, aldosterone, sodium, potassium in the serum and 24-hour urine, urine-creatinine.

If necessary AGS-genotyping.

11-hydroxylase-deficiency (virilization, hypertonus) (“Conn-similiar-syndrome”)

11-desoxycortisol in the serum (↑↑),

3-beta-HSD-deficiency (slight virilization in girls, possible salt-loss)

DHEAS (­↑ bis ↑↑↑), 17-OH-progesterone (↑)

Adults:

Postpuberal or “late-onset” androgenital syndrome, (in most cases due to 21-hydroxylase-deficiency)

Clinical presentation:

Hirsutism, severe acne, virilization, dysbalanced cycle, amenorrhea, hyposomia. Examination during proliferative stage: DHEAS, testosterone, 17-hydroxyprogesterone

Generous indication:

ACTH-test with 17-hydroxyprogesterone- and cortisol-evaluation (see functiontests) or AGS-genotyping

Please also refer to sections “21-hydroxylase-deficiency, 11-beta-hydroxylase-deficiency, molecular-genetic evidence

If there is a child-wish, gene-analysis of the father should also be carried out.