Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.

<h4>Background</h4>The cause of isolated gonadotropin-independent precocious puberty (PP) with an ovarian cyst is unknown in the majority of cases. Here, we describe 11 new cases of peripheral PP and, based on phenotypes observed in mouse models, we tested the hypothesis that mutations i...

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Autores principales:	Raja Brauner, Anu Bashamboo, Sébastien Rouget, Marie Goulet, Pascal Philibert, Hélène Sarda-Thibault, Christine Trivin, Micheline Misrahi, Charles Sultan, Ken McElreavey
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2010
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7f36b6ec732441faa8a6520bfd8b36cc
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spelling	oai:doaj.org-article:7f36b6ec732441faa8a6520bfd8b36cc2021-12-02T20:20:29ZClinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.1932-620310.1371/journal.pone.0011282https://doaj.org/article/7f36b6ec732441faa8a6520bfd8b36cc2010-06-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20593028/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>The cause of isolated gonadotropin-independent precocious puberty (PP) with an ovarian cyst is unknown in the majority of cases. Here, we describe 11 new cases of peripheral PP and, based on phenotypes observed in mouse models, we tested the hypothesis that mutations in the GNAS1, NR5A1, LHCGR, FSHR, NR5A1, StAR, DMRT4 and NOBOX may be associated with this phenotype.<h4>Methodology/principal findings</h4>11 girls with gonadotropin-independent PP were included in this study. Three girls were seen for a history of prenatal ovarian cyst, 6 girls for breast development, and 2 girls for vaginal bleeding. With one exception, all girls were seen before 8 years of age. In 8 cases, an ovarian cyst was detected, and in one case, suspected. One other case has polycystic ovaries, and the remaining case was referred for vaginal bleeding. Four patients had a familial history of ovarian anomalies and/or infertility. Mutations in the coding sequences of the candidate genes GNAS1, NR5A1, LHCGR, FSHR, NR5A1, StAR, DMRT4 and NOBOX were not observed.<h4>Conclusions/significance</h4>Ovarian PP shows markedly different clinical features from central PP. Our data suggest that mutations in the GNAS1, NR5A1, LHCGR, FSHR StAR, DMRT4 and NOBOX genes are not responsible for ovarian PP. Further research, including the identification of familial cases, is needed to understand the etiology of ovarian PP.Raja BraunerAnu BashambooSébastien RougetMarie GouletPascal PhilibertHélène Sarda-ThibaultChristine TrivinMicheline MisrahiCharles SultanKen McElreaveyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 5, Iss 6, p e11282 (2010)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Raja Brauner Anu Bashamboo Sébastien Rouget Marie Goulet Pascal Philibert Hélène Sarda-Thibault Christine Trivin Micheline Misrahi Charles Sultan Ken McElreavey Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
description	<h4>Background</h4>The cause of isolated gonadotropin-independent precocious puberty (PP) with an ovarian cyst is unknown in the majority of cases. Here, we describe 11 new cases of peripheral PP and, based on phenotypes observed in mouse models, we tested the hypothesis that mutations in the GNAS1, NR5A1, LHCGR, FSHR, NR5A1, StAR, DMRT4 and NOBOX may be associated with this phenotype.<h4>Methodology/principal findings</h4>11 girls with gonadotropin-independent PP were included in this study. Three girls were seen for a history of prenatal ovarian cyst, 6 girls for breast development, and 2 girls for vaginal bleeding. With one exception, all girls were seen before 8 years of age. In 8 cases, an ovarian cyst was detected, and in one case, suspected. One other case has polycystic ovaries, and the remaining case was referred for vaginal bleeding. Four patients had a familial history of ovarian anomalies and/or infertility. Mutations in the coding sequences of the candidate genes GNAS1, NR5A1, LHCGR, FSHR, NR5A1, StAR, DMRT4 and NOBOX were not observed.<h4>Conclusions/significance</h4>Ovarian PP shows markedly different clinical features from central PP. Our data suggest that mutations in the GNAS1, NR5A1, LHCGR, FSHR StAR, DMRT4 and NOBOX genes are not responsible for ovarian PP. Further research, including the identification of familial cases, is needed to understand the etiology of ovarian PP.
format	article
author	Raja Brauner Anu Bashamboo Sébastien Rouget Marie Goulet Pascal Philibert Hélène Sarda-Thibault Christine Trivin Micheline Misrahi Charles Sultan Ken McElreavey
author_facet	Raja Brauner Anu Bashamboo Sébastien Rouget Marie Goulet Pascal Philibert Hélène Sarda-Thibault Christine Trivin Micheline Misrahi Charles Sultan Ken McElreavey
author_sort	Raja Brauner
title	Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
title_short	Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
title_full	Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
title_fullStr	Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
title_full_unstemmed	Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
title_sort	clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.
publisher	Public Library of Science (PLoS)
publishDate	2010
url	https://doaj.org/article/7f36b6ec732441faa8a6520bfd8b36cc
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Clinical, biological and genetic analysis of prepubertal isolated ovarian cyst in 11 girls.

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