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

✍ Scribed by Claudio Giacomozzi; Francesca Gullotta; Giovanni Federico; Isabella Colapietro; Anna Maria Nardone; Stefano Cianfarani

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 211 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33376

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✦ Synopsis

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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