Pagine elettroniche
Dalle curve di crescita alla diagnosi di sindrome adrenogenitale
From the growth charts to the diagnosis of adreno-genital syndrome
D. Cimino, V. Giacchi
Settembre 2012 - pagg. 463 -464
Abstract
Non-classical congenital adrenal hyperplasia (NC
CAH) is an autosomal recessive disease that appears during
childhood with hyperandrogenic symptoms (premature pubarche,
accelerated growth, advanced bone age, penile enlargement,
and hypertrophy of clitoris). The case of a 8-year-old
boy that showed abnormal statural growth at the annual health
check-up is reported. Pubic hair was present but the parents
had never noticed this sign before. The advanced bone age
and the detection of 17OHP high levels led to the suspicion of
NC CAH. The patient was sent to the Reference Centre where
NC CAH was diagnosed and molecular analysis of the
CYP21A2 gene was started to identify the genotype of the child
and his parents. Although the diagnosis must be made by the
Centre, a careful examination and a proper interpretation of
growth charts are sufficient to the paediatrician to suspect this
disease and measure the 17OHP serum concentration.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
Bibliografia
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