Dalle curve di crescita alla diagnosi di sindrome adrenogenitale
di famiglia, Ragusa 2 Scuola
di Specializzazione in Pediatria, Università di Catania
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.
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