Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome

• Main Authors: Ji Won Koh (Author), So Young Kang (Author), Gu Hwan Kim (Author), Han Wook Yoo (Author), Jeesuk Yu (Author)
• Format: Bog
• Udgivet: Korean Society of Pediatric Endocrinology, 2013-06-01T00:00:00Z.
• Fag: article
• Online adgang: Connect to this object online.

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 muscu...