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 pr...
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| Format: | Article |
| Language: | English |
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Shiraz University of Medical Sciences
2017-03-01
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| Series: | Iranian Journal of Medical Sciences |
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| Online Access: | http://ijms.sums.ac.ir/index.php/IJMS/article/view/1809 |
| _version_ | 1818562733363167232 |
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| author | Zahra Razavi Hossein Emad Momtaz |
| author_facet | Zahra Razavi Hossein Emad Momtaz |
| author_sort | Zahra Razavi |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T01:07:38Z |
| format | Article |
| id | doaj.art-b334f10e4df34d4ca5ec5bfaf03773ae |
| institution | Directory Open Access Journal |
| issn | 0253-0716 1735-3688 |
| language | English |
| last_indexed | 2024-12-14T01:07:38Z |
| publishDate | 2017-03-01 |
| publisher | Shiraz University of Medical Sciences |
| record_format | Article |
| series | Iranian Journal of Medical Sciences |
| spelling | doaj.art-b334f10e4df34d4ca5ec5bfaf03773ae2022-12-21T23:22:55ZengShiraz University of Medical SciencesIranian Journal of Medical Sciences0253-07161735-36882017-03-01422210214Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary AmenorrheaZahra Razavi0Hossein Emad Momtaz1Department of Pediatrics, Besat Hospital, Hamadan University of Medical Sciences, Hamadan, IranDepartment of Pediatrics, Besat Hospital, Hamadan University of Medical Sciences, Hamadan, IranChromosomal 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.http://ijms.sums.ac.ir/index.php/IJMS/article/view/1809Genetic translocationGonadal dysgenesisTurner syndrome |
| spellingShingle | Zahra Razavi Hossein Emad Momtaz Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea Iranian Journal of Medical Sciences Genetic translocation Gonadal dysgenesis Turner syndrome |
| title | Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea |
| title_full | Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea |
| title_fullStr | Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea |
| title_full_unstemmed | Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea |
| title_short | Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea |
| title_sort | balanced reciprocal translocation t x 1 in a girl with tall stature and primary amenorrhea |
| topic | Genetic translocation Gonadal dysgenesis Turner syndrome |
| url | http://ijms.sums.ac.ir/index.php/IJMS/article/view/1809 |
| work_keys_str_mv | AT zahrarazavi balancedreciprocaltranslocationtx1inagirlwithtallstatureandprimaryamenorrhea AT hosseinemadmomtaz balancedreciprocaltranslocationtx1inagirlwithtallstatureandprimaryamenorrhea |