Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.
10.6065/apem.2013.18.2.90
- Author:
Ji Won KOH
1
;
So Young KANG
;
Gu Hwan KIM
;
Han Wook YOO
;
Jeesuk YU
Author Information
1. Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea. dryujs@dankook.ac.kr
- Publication Type:Case Report
- Keywords:
X-linked adrenal hypoplasia congenita;
Nuclear Receptor DAX-1;
Precocious puberty;
Central
- MeSH:
Adrenal Hyperplasia, Congenital;
Adrenal Insufficiency;
DAX-1 Orphan Nuclear Receptor;
Fludrocortisone;
Gene Deletion;
Genetic Diseases, X-Linked;
Glycerol Kinase;
Gonadotropin-Releasing Hormone;
Hair;
Humans;
Hydrocortisone;
Hypogonadism;
Interleukin-1;
Korea;
Luteinizing Hormone;
Male;
Muscular Dystrophy, Duchenne;
Puberty;
Puberty, Precocious
- From:Annals of Pediatric Endocrinology & Metabolism
2013;18(2):90-94
- CountryRepublic of Korea
- Language:English
-
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.
