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

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

Am J Med Genet A

Molecular Endocrinology Unit-D.P.U.O., Bambino Gesù Children's Hospital-"Rina Balducci" Center of Pediatric Endocrinology, Tor Vergata University, Rome, Italy.

Published: May 2010

AI Article Synopsis

Article 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.

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Source
http://dx.doi.org/10.1002/ajmg.a.33376DOI Listing

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