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Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.
- Source :
-
Hormone research in paediatrics [Horm Res Paediatr] 2011 Feb; Vol. 75 (2), pp. 153-6. Date of Electronic Publication: 2010 Oct 22. - Publication Year :
- 2011
-
Abstract
- Background/aims: X-linked adrenal hypoplasia congenita (AHC) is typically characterized by a DAX-1 gene mutation and hypogonadotropic hypogonadism. However, rare cases with precocious puberty or normal puberty have been reported. Currently, the mechanism of action of the DAX-1 gene on puberty is not clearly known.<br />Case Report: We report a male who was diagnosed as having AHC in the newborn period and detected as having stop codon Q155 X mutation in the DAX-1 gene. This subject developed central precocious puberty when he was 9 months old.<br />Results: This paper is the first case report of AHC, central precocious puberty and a mutation in the DAX-1 gene. DAX-1 gene mutations can result in various phenotypes.<br />Conclusion: In cases with AHC, central precocious puberty can develop rather than hypogonadotropic hypogonadism, which is the most frequently observed puberty disorder related to DAX-1 gene mutations.<br /> (Copyright © 2010 S. Karger AG, Basel.)
- Subjects :
- Adrenal Hyperplasia, Congenital drug therapy
Adrenal Hyperplasia, Congenital genetics
Adrenal Insufficiency
Genetic Diseases, X-Linked drug therapy
Genetic Diseases, X-Linked genetics
Gonadotropin-Releasing Hormone
Humans
Hypoadrenocorticism, Familial
Infant
Leuprolide therapeutic use
Male
DAX-1 Orphan Nuclear Receptor genetics
Puberty, Precocious genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1663-2826
- Volume :
- 75
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Hormone research in paediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 20975255
- Full Text :
- https://doi.org/10.1159/000320701