Premature ovarian failure, absence of pubic and axillary hair with de novo 46,X,t(X;15)(q24;q26.3).
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.
Giacomozzi
Claudio
C
Molecular Endocrinology Unit-D.P.U.O., Bambino Gesù Children's Hospital-"Rina Balducci" Center of Pediatric Endocrinology, Tor Vergata University, Rome, Italy.
Gullotta
Francesca
F
Federico
Giovanni
G
Colapietro
Isabella
I
Nardone
Anna Maria
AM
Cianfarani
Stefano
S
D000293:Adolescent; D002648:Child; D002871:Chromosome Banding; D019457:Chromosome Breakage; D022202:Chromosomes, Artificial, Bacterial / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006728:Hormones / Q000097:blood; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D011247:Pregnancy; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D011630:Pubic Bone; D056916:Segmental Duplications, Genomic / Q000235:genetics; D014178:Translocation, Genetic
D006728:Hormones