M&B Pagine Elettroniche

Caso contributivo

Dalle curve di crescita alla diagnosi di sindrome adrenogenitale

Diego Cimino¹, Valentina Giacchi²

¹Pediatra di famiglia, Ragusa
² Scuola di Specializzazione in Pediatria, Università di Catania

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.

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