Clinical Diagnosis of Patients with Congenital Adrenal Hyperplasia: Where do Boys Vanish?

Authors: V. Procházková 1;  J. Lebl 1;  O. Hníková 1;  B. Kalvachová 2;  S. Koloušková 3;  M. Šnajderová 3;  J. Venháčová 4;  F. Votava 1;  J. Zapletalová 4
Authors‘ workplace: Klinika dětí a dorostu 3. LF UK, FN Královské Vinohrady, Praha, 1přednosta doc. MUDr. J. Lebl, CSc. Endokrinologický ústav, Praha, 2ředitel prof. MUDr. RNDr. L. Stárka, DrSc. II. dětská klinika 2. LF UK, FNsP v Motole, Praha, 3přednosta doc. MUDr. J. Vavř
Published in: Čes-slov Pediat 1999; (10): 544-547.


With the objective to evaluate the contemporary empirical diagnosis of congenital adrenal hyperplasia (CAH)the authors analyzed data on 50 patients with P450c21 (21-hydroxylase) from four paediatric endocrinologicaldepartments in the Czech Republic. In the whole group of patients the ratio of girls to boys was 2.33 : 1 (p < 0.05).In the sub-group of children with salt-wasting CAH (n = 32) the predominance of girls was 2.56 : 1 (p < 0.05),whereby the age at diagnosis did not differ in this sub-group of children between the two sexes (girls - median 0.6months, boys - median 0.7 months). With regard to the expected rate in both sexes 1 : 1 in autosomal recessivetransmission of the disease in the investigation some 60% affected boys were short. With regard to the expectedincidence of CAH 1 : 10 000 to 1 : 15 000 of liveborn infants it may be assumed that during the last decade some30 affected boys died from metabolic collapse, probably before the diagnosis was established. The fate of futurechildren with CAH can be markedly improved by blanket neonatal screening of CAH by assessment of 17alpha-hydroxyprogesterone in a dry blood drop.

Key words:
congenital adrenal hyperplasia, sex ratio, clinical diagnosis, neonatal screening

Full text is not available online.
If interested in a scan of this journal, contact NTO ČLS JEP.

Neonatology Paediatrics General practitioner for children and adolescents
Forgotten password

Don‘t have an account?  Create new account

Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.


Don‘t have an account?  Create new account