Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
نویسندگان
چکیده
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.
منابع مشابه
Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea
AbstractChromosomal 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 ...
متن کاملA Rare De Novo Balanced X; 1 Translocation in an Indian Female with Primary Amenorrhea
BACKGROUND Translocations involving X chromosome and an autosome are rather rare due to associated infertility in men and subfertility in women. X chromosome translocations are frequently associated with primary or secondary amenorrhea. In this report, a case of primary amenorrhea with a de novo balanced reciprocal translocation was presented between chromosomes X and 1. CASE PRESENTATION A 2...
متن کاملSimultaneous Occurrence of Turner Syndrome and Robertsonian Translocation in a Girl with Short Stature: A Case Report
Short stature is an important clinical feature of Turner syndrome (TS). In this report, a girl with short stature suspected to have Turner syndrome underwent cytogenetic analysis, which confirmd Turner syndrome by observing sex chromosomal monosomy using the karyotype test. In addition to Turner syndrome, Robertsonian (ROB) translocation t(13;14) was detected. As recommended by a genetic counse...
متن کاملDiamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation.
A 7 year old girl is described with congenital hypoplastic anaemia (Diamond-Blackfan anaemia, DBA) and an apparently balanced reciprocal translocation, 46,XX,t(X;19)(p21;q13). The girl has associated features including short stature, unilateral kidney hypoplasia, and a branchial cyst. Fluorescent in situ hybridisation (FISH) studies with 19q specific cosmids showed that the chromosome 19 breakp...
متن کامل