Screening and diagnosis of congenital adrenal hyperplasia in Basilicata (Italy).
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 103
Artigo
em Inglês
| IMSEAR
| ID: sea-34290
ABSTRACT
Research of the frequency of 21-OH enzyme deficiency, autosomal recessive disease, caused by aberrations in the short arm of chromosome 6 was performed in order to prevent CAH (Congenital Adrenal Hyperplasia) manifested by 1) possible cerebral damage 2) errors of sex attribution 3) behavioral hyperandrogenism 4) metabolic damage. Radioimmunoassay was used where there is competition between a radioactive and a non-radioactive antigens for a fixed number of antibody binding sites. In an 18 month period of screening 6,000 newborns we found one positive case of CAH which we confirmed by dosaging steroids such as, 4-androstenedione, testosterone, ACTH, PRA and electrolytic activity on the serum. We ascertained that an incidence of 16,000 in a 18 month period is high enough to deserve attention.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Recém-Nascido
/
Triagem Neonatal
/
Hiperplasia Suprarrenal Congênita
/
17-alfa-Hidroxiprogesterona
/
Itália
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
País/Região como assunto:
Europa
Idioma:
Inglês
Revista:
Southeast Asian J Trop Med Public Health
Ano de publicação:
1999
Tipo de documento:
Artigo
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