Talk:Trisomy X
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Cite this page: Hill, M.A. (2024, April 20) Embryology Trisomy X. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Trisomy_X |
Karyotype image - http://www.biology.iupui.edu/biocourses/N100/images/XXXFemale.gif
2016
Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis
Fertil Steril. 2016 Jun;105(6):1547-53. doi: 10.1016/j.fertnstert.2016.02.019. Epub 2016 Mar 4.
Stagi S1, di Tommaso M2, Scalini P3, Lapi E4, Losi S5, Bencini E5, Masoni F6, Dosa L4, Becciani S3, de Martino M3.
Abstract
OBJECTIVE: To evaluate the hypothalamus-hypophysis-gonad axis in a cohort of children and adolescents with nonmosaic triple X syndrome. DESIGN: Cross-sectional study with retrospective analysis. SETTING: University pediatric hospital. PATIENT(S): Fifteen prepubertal subjects (median age 9.0 years, range 6.9-11.9 years) with nonmosaic triple X syndrome and age- and pubertal-matched control group (30 girls, median age 9.1 y, range 6.9-11.6 years). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): We evaluated FSH, LH, and E2 levels and performed an autoimmunity screening as well as a pelvic ultrasonography and an LH-releasing hormone stimulation test. RESULT(S): All triple X patients (with and without pubertal signs) showed a pubertal LH peak level that was significantly different from controls. Triple X patients showed increased basal and peak FSH and LH values compared with control subjects. However, the mean E2 level was significantly lower than control subjects. However, triple X patients showed reduced DHEAS levels and reduced inhibin levels compared with control subjects. Finally, triple X patients had a significantly reduced ovarian volume compared with control subjects, in both prepubertal and pubertal patients. CONCLUSION(S): Triple X patients showed premature activation of the GnRH pulse generator, even without puberty signs. Both basal and peak LH and FSH levels were higher than in control subjects, and E2 and inhibin levels and ovarian volume were reduced, which led to a reduced gonadal function. Other studies and a longitudinal evaluation is necessary to better understand the endocrinologic features of these subjects. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. KEYWORDS: Triple X syndrome; early puberty; hypergonadotropic hypergonadism; precocious puberty; premature ovarian failure; puberty PMID 26952785
Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation
Gynecol Endocrinol. 2016 Jan;32(1):14-7. doi: 10.3109/09513590.2015.1106472. Epub 2015 Nov 16.
Fiorio P1, Rosaia De Santis L2, Cuoco C1, Gimelli G1, Gastaldi R3, Bonatti F2, Ravazzolo R4,5, Bocciardi R4,5.
Abstract
We report on a 31-year old female who presented at genetic counseling for a small uterus, secondary amenorrhea and sterility. Gonadotropic hormone levels were low, suggesting a Hypogonadotropic Hypogonadism (HH) condition. Cytogenetic analysis demonstrated the presence of Trisomy X associated to an interstitial deletion of chromosome 4q13.2, resulting in the complete loss of a copy of the GNRHR gene. As GNRHR is known to be responsible for an autosomal recessive form of HH, we checked the status of the undeleted allele and we found the Q106R substitution. In conclusion, the results of our cytogenetic and molecular analyses have allowed us to clarify the etiology of the patient's condition. KEYWORDS: 4q13.2; GNRHR; Hypogonadotropic hypogonadism; deletion; genetic counseling; trisomy X
PMID 26572316
2014
A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome
Genes Brain Behav. 2014 Nov;13(8):841-9. doi: 10.1111/gbb.12180. Epub 2014 Oct 27.
Lenroot RK1, Blumenthal JD, Wallace GL, Clasen LS, Lee NR, Giedd JN.
Abstract
Trisomy X, the presence of an extra X chromosome in females (47,XXX), is a relatively common but under-recognized chromosomal disorder associated with characteristic cognitive and behavioral features of varying severity. The objective of this study was to determine whether there were neuroanatomical differences in girls with Trisomy X that could relate to cognitive and behavioral differences characteristic of the disorder during childhood and adolescence. MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample. Published 2014. This article is a U.S. Government work and is in the public domain in the USA. KEYWORDS: Trisomy X syndrome; X chromosome; XXX; adolescents; brain; children; magnetic resonance imaging; sex chromosome aneuploidy
PMID 25287572
2010
A review of trisomy X (47,XXX)
Orphanet J Rare Dis. 2010 May 11;5:8.
Tartaglia NR, Howell S, Sutherland A, Wilson R, Wilson L. Source Department of Pediatrics, University of Colorado Denver School of Medicine, 13123 East 16th Ave., Aurora, CO 80045, USA. tartaglia.nicole@tchden.org Abstract Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births. As some individuals are only mildly affected or asymptomatic, it is estimated that only 10% of individuals with trisomy X are actually diagnosed. The most common physical features include tall stature, epicanthal folds, hypotonia and clinodactyly. Seizures, renal and genitourinary abnormalities, and premature ovarian failure (POF) can also be associated findings. Children with trisomy X have higher rates of motor and speech delays, with an increased risk of cognitive deficits and learning disabilities in the school-age years. Psychological features including attention deficits, mood disorders (anxiety and depression), and other psychological disorders are also more common than in the general population. Trisomy X most commonly occurs as a result of nondisjunction during meiosis, although postzygotic nondisjunction occurs in approximately 20% of cases. The risk of trisomy X increases with advanced maternal age. The phenotype in trisomy X is hypothesized to result from overexpression of genes that escape X-inactivation, but genotype-phenotype relationships remain to be defined. Diagnosis during the prenatal period by amniocentesis or chorionic villi sampling is common. Indications for postnatal diagnoses most commonly include developmental delays or hypotonia, learning disabilities, emotional or behavioral difficulties, or POF. Differential diagnosis prior to definitive karyotype results includes fragile X, tetrasomy X, pentasomy X, and Turner syndrome mosaicism. Genetic counseling is recommended. Patients diagnosed in the prenatal period should be followed closely for developmental delays so that early intervention therapies can be implemented as needed. School-age children and adolescents benefit from a psychological evaluation with an emphasis on identifying and developing an intervention plan for problems in cognitive/academic skills, language, and/or social-emotional development. Adolescents and adult women presenting with late menarche, menstrual irregularities, or fertility problems should be evaluated for POF. Patients should be referred to support organizations to receive individual and family support. The prognosis is variable, depending on the severity of the manifestations and on the quality and timing of treatment.
PMID 20459843
X trisomy in a sterile mare
Equine Vet J. 2010 Jul;42(5):469-70.
de Lorenzi L, Molteni L, Zannotti M, Galli C, Parma P.
Department of Animal Science, Milan University, Italy. Abstract This report concerns the cytogenetic analysis, using both C-banding and fluorescence in situ hybridisation techniques, of a sterile mare. Results obtained revealed a 2n = 65, XXX condition with no sign of mosaicism. The work supports the suggestion that X trisomy, rare in horse, causes infertility in mares and is not associated to other clearly visible phenotypic features.
PMID 20636786
