title: Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.
abstract: X-linked adrenal hypoplasia congenita is caused by the mutation of DAX-1 gene (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1), and can occur as part of a contiguous gene deletion syndrome in association with glycerol kinase (GK) deficiency, Duchenne muscular dystrophy and X-linked interleukin-1 receptor accessory protein-like 1 (IL1RAPL1) gene deficiency. It is usually associated with hypogonadotropic hypogonadism, although in rare cases, it has been reported to occur in normal puberty or even central precocious puberty. This study addresses a case in which central precocious puberty developed in a boy with X-linked adrenal hypoplasia congenita who had complete deletion of the genes DAX-1, GK and IL1RAPL1 (Xp21 contiguous gene deletion syndrome). Initially he was admitted for the management of adrenal crisis at the age of 2 months, and managed with hydrocortisone and florinef. At 45 months of age, his each testicular volumes of 4 mL and a penile length of 5 cm were noted, with pubic hair of Tanner stage 2. His bone age was advanced and a gonadotropin-releasing hormone (GnRH) stimulation test showed a luteinizing hormone peak of 8.26 IU/L, confirming central precocious puberty. He was then treated with a GnRH agonist, as well as steroid replacement therapy. In Korea, this is the first case of central precocious puberty developed in a male patient with X-linked adrenal hypoplasia congenita.
authors.affiliation: Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.
authors.forename: Ji Won
authors.initials: JW
authors.lastname: Koh
authors.affiliation: Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.
authors.forename: So Young
authors.initials: SY
authors.lastname: Kang
authors.affiliation: Medical Genetics Center, Asan Medical Center, Seoul, Korea.
authors.forename: Gu Hwan
authors.initials: GH
authors.lastname: Kim
authors.affiliation: Medical Genetics Center, Asan Medical Center, Seoul, Korea.
authors.forename: Han Wook
authors.initials: HW
authors.lastname: Yoo
authors.affiliation: Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.
authors.forename: Jeesuk
authors.initials: J
authors.lastname: Yu
keywords: Central; Nuclear Receptor DAX-1; Precocious puberty; X-linked adrenal hypoplasia congenita