Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation

Darcan S. , GOKSEN D. , ÖZEN S. , OZKINAY F., Durmaz B. , LALLI E.

HORMONE RESEARCH IN PAEDIATRICS, vol.75, no.2, pp.153-156, 2011 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 75 Issue: 2
  • Publication Date: 2011
  • Doi Number: 10.1159/000320701
  • Page Numbers: pp.153-156
  • Keywords: X-linked adrenal hypoplasia congenita, Central precocious puberty, DAX-1 gene mutation, HYPOGONADOTROPIC HYPOGONADISM, GENE, DIAGNOSIS, SPECTRUM, ORIGIN


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. 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. 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. 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. Copyright (C) 2010 S. Karger AG, Basel