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Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3)

Authors

  • Claudio Giacomozzi,

    1. Molecular Endocrinology Unit-D.P.U.O., Bambino Gesù Children's Hospital-“Rina Balducci” Center of Pediatric Endocrinology, Tor Vergata University, Rome, Italy
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  • Francesca Gullotta,

    1. Laboratory of Medical Genetics, Fondazione PTV-Policlinico Tor Vergata, Rome, Italy
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  • Giovanni Federico,

    1. Unit of Endocrinology and Diabetes, Department of Pediatrics, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy
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  • Isabella Colapietro,

    1. Laboratory of Medical Genetics, Fondazione PTV-Policlinico Tor Vergata, Rome, Italy
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  • Anna Maria Nardone,

    1. Laboratory of Medical Genetics, Fondazione PTV-Policlinico Tor Vergata, Rome, Italy
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  • Stefano Cianfarani

    Corresponding author
    1. Molecular Endocrinology Unit-D.P.U.O., Bambino Gesù Children's Hospital-“Rina Balducci” Center of Pediatric Endocrinology, Tor Vergata University, Rome, Italy
    • Department of Public Health and Cell Biology, “Rina Balducci” Center of Pediatric Endocrinology, Tor Vergata University, Room E-178, Via Montpellier 1, 00133 Rome, Italy.
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  • Claudio Giacomozzi and Francesca Gullotta contributed equally to this work.

  • How to cite this article: Giacomozzi C, Gullotta F, Federico G, Colapietro I, Nardone AM, Cianfarani S. 2010. Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3). Am J Med Genet Part A 152A:1305–1309.

Abstract

We report on an adolescent girl with premature ovarian failure (POF), de novo unbalanced translocation X;15(q24;q26.3) with partial Xq24 duplication, and absence of pubic and axillary hair. Endocrine assessment showed normal adrenal and ovarian function. Chromosomal abnormality was identified by standard cytogenetic methods, array-CGH, and FISH analysis. Mutation analysis showed normal androgen receptor genes. Pubic and axillary hair began developing during estrogen + progesterone therapy. Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence. © 2010 Wiley-Liss, Inc.

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