Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation. - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue Hormone Research in Paediatrics Année : 2011

Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.

Résumé

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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Dates et versions

hal-00731017 , version 1 (11-09-2012)

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Sukran Darcan, Damla Goksen, Samim Ozen, Ferda Ozkinay, Burak Durmaz, et al.. Gonadotropin-dependent precocious puberty in a patient with X-linked adrenal hypoplasia congenita caused by a novel DAX-1 mutation.. Hormone Research in Paediatrics, 2011, 75 (2), pp.153-6. ⟨10.1159/000320701⟩. ⟨hal-00731017⟩
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