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Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3)
Author(s) -
Giacomozzi Claudio,
Gullotta Francesca,
Federico Giovanni,
Colapietro Isabella,
Nardone Anna Maria,
Cianfarani Stefano
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33376
Subject(s) - virilization , biology , pubic hair , gene duplication , abnormality , breakpoint , premature ovarian failure , chromosomal translocation , androgen receptor , locus (genetics) , endocrinology , medicine , cancer research , androgen , gene , genetics , hormone , psychiatry , prostate cancer , cancer
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.