Document Detail

Gonadotropin-Dependent Precocious Puberty in a Patient with X-Linked Adrenal Hypoplasia Congenita Caused by a Novel DAX-1 Mutation.
MedLine Citation:
PMID:  20975255     Owner:  NLM     Status:  In-Data-Review    
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.
Sukran Darcan; Damla Goksen; Samim Ozen; Ferda Ozkinay; Burak Durmaz; Enzo Lalli
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Publication Detail:
Type:  Journal Article     Date:  2010-10-22
Journal Detail:
Title:  Hormone research in pædiatrics     Volume:  75     ISSN:  1663-2826     ISO Abbreviation:  Horm Res Paediatr     Publication Date:  2011  
Date Detail:
Created Date:  2011-02-17     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101525157     Medline TA:  Horm Res Paediatr     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  153-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 S. Karger AG, Basel.
Department of Pediatric Endocrinology and Metabolism, Ege University, Izmir, Turkey.
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