진성 성조숙증으로 전환된 선천성 부신 과형성증 1례

A Case of True Precocious Puberty Complicating Congenital Adrenal Hyperplasia

진단이 지연되었거나 적절하게 치료되지 않은 선천성 부신 과형성증을 가진 남아에서 장기간 고농도의 남성호르몬에 노출될 경우 처음에는 가성 성조숙증이었다가 이후 진성 성조숙증으로 전환될 수 있으므로 선천성 부신 과형성증의 조기진단과 치료가 필요하다. 저자들은 가성 성조숙증에서 진성 성조숙증으로 전환된 선천성 부신 과형성증을 가진 남아에서 hydrocortisone과 GnRH 유도체를 사용하여 큰 부작용 없이 2차 성징의 퇴축을 가져온 1례를 경험하고 문헌고찰과 함께 보고하는 바이다.

Congenital adrenal hyperplasia(CAH) is a recognized cause of precocious pseudopuberty. Some children with CAH also develop true precocious puberty with early maturation of the hypothalamic-pituitary-gonadal axis. We review a case of CAH who eventually developed central precocious puberty nine months after initial treatment with corticosteroid. A 3-year-old boy visited complaining of rapid growth, a large penis and frequent penile erections. This patient was diagnosed with CAH with elevated 17-OH progesterone and cortical hypertrophy of adrenal gland on CT scan. His gonadotropin levels were within the normal prepubertal range. Even on treatment with corticosteroid he grew rapidly and had testicular enlargement, pubic hair development and rapid bone maturation. At second admission, his gonadotropin levels were elevated both basally and in response to LHRH stimulation, suggesting that the CAH led to early activation of pubertal gonadotropin secretion(true precocious puberty). He was treated with monthly depot injections of a LHRH analog in addition to the hydrocortisone. His second sexual characteristics regressed gradually and rate of linear growth and bone maturation decreased.