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