Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome
Annals of Pediatric Endocrinology & Metabolism
;
: 90-94, 2013.
Article
in English
| WPRIM
| ID: wpr-133870
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Puberty, Precocious
/
Fludrocortisone
/
Hydrocortisone
/
Luteinizing Hormone
/
Gonadotropin-Releasing Hormone
/
Interleukin-1
/
Puberty
/
Gene Deletion
/
Adrenal Insufficiency
/
Adrenal Hyperplasia, Congenital
Limits:
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2013
Type:
Article
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