Screening and diagnosis of congenital adrenal hyperplasia in Basilicata (Italy).
Southeast Asian J Trop Med Public Health
;
1999 ; 30 Suppl 2(): 103
Article
in English
| 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Humans
/
Infant, Newborn
/
Neonatal Screening
/
Adrenal Hyperplasia, Congenital
/
17-alpha-Hydroxyprogesterone
/
Italy
Type of study:
Diagnostic study
/
Screening study
Country/Region as subject:
Europa
Language:
English
Journal:
Southeast Asian J Trop Med Public Health
Year:
1999
Type:
Article
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