Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of
adrenal steroidogenesis. Disorders in steroid 21‐hydroxylation account for over 95% of …

Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase
deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis …

Background: Most patients with 21-hydroxylase deficiency carry CYP21A1P-derived
mutations, but an increasing number of novel and rare mutations have been reported in …

O sexo cromossômico é estabelecido na fertilização pela presença de um cromossomo X
ou Y. O desenvolvimento dos sexos masculino e feminino passa, num primeiro momento …

Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia
(CAH-21OH). We determined by allele-specific PCR the frequency of microconversion in the …

Background The association of congenital adrenal hyperplasia (CAH) caused by 21‐
hydroxylase enzyme (21OHase) deficiency, duration of treatment and dosage with …

The 21‐hydroxylase deficiency (21OHD) is caused by CYP21A2 mutations resulting in
severe or moderate enzymatic impairments. 21OHD females carrying similar genotypes …

In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in
CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four …

Objective A severely virilized 46, XX newborn girl was referred to our center for evaluation
and treatment of congenital adrenal hyperplasia (CAH) because of highly elevated 17α …

We present the functional and structural effects of seven novel (p. Leu12Met, p. Arg16Cys, p.
Ser101Asn, p. Ser202Gly, p. Pro267Leu, p. Gln389_Ala391del, and p. Thr450Met) and two …