Balanced reciprocal translocation t(X;1) in a girl with tall stature and primary amenorrhea

Chromosomal translocations constitute one of the most important,yet uncommon,causes of primary amenorrhea and gonadal dysgenesis. although x-autosome translocations are frequently associated with streak gonads and clinical features of the turner syndrome,the majority of x-autosome carriers may present with a variable phenotype,developmental delay,and recognizable x-linked syndrome due to nonrandom x-inactivation. in this article,we describe a healthy 15.5-year-old girl with primary amenorrhea,gonadal dysgenesis,and tall stature without other manifestations of the turner syndrome. relevant clinical,biochemical,endocrinological,and cytogenetical evaluations were performed. initial investigations revealed hypergonadotropic hypogonadism (fsh=134 miu/ml [normal=10–15 miu/ml],lh=47.5 [normal=10–15 miu/ml],and estradiol=24.3 pmol/l). on ultrasound examination of the pelvis,streak ovaries with a hypoplastic uterus were noted. chromosome study,performed according to routine procedures,revealed an apparently balanced reciprocal translocation involving the short arm of chromosome 1(p2) and the long arm of the x chromosome (q2) in all the cells with the following karyotype: 46,x,t(1;x)(p13;q22). she was placed on hormone replacement therapy. in our patient,x-autosome translocation was associated with gonadal dysgenesis and tall stature. we conclude that t(x;1) may be associated with gonadal dysgenesis without other congenital abnormalities. to our knowledge,normal phenotype with gonadal dysgenesis and tall stature in association with t(x;1) translocation has not been previously reported. © 2017,shiraz university of medical sciences. all rights reserved.