Turner Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Turner Syndrome, including details on symptoms, causes, chromosomes, prognosis.

Description of children with 45,X/46,XY karyotype.

Tosson H, Rose SR, Gartner LA

Pediatric Endocrinology Clinic, Morgantown, WV, USA, hanan.tosson@yahoo.com.

We hypothesized that because 45,X/46,XY (X/XY) children share a cell line with Turner syndrome (TS), they also share co-morbidities described in TS. In addition, the presence of the Y chromosome in brain and in other body tissues would influence their function. On the basis of our findings, we aimed to establish optimal procedures for clinical evaluation, management, and follow-up of these children. Sixteen X/XY children were evaluated and managed at a single institution as part of standard clinical care as established at the time between 1969 and 2009. In January of 2005, we started retrospective record review of all X/XY children in combination with cohort follow-up (of those who had not reached adult height) until August of 2009. The study included review of clinical presentation, clinical characteristics, diagnostic measures, radiologic studies, karyotype studies, psycho-endocrinology evaluation, and growth-promoting treatments. There was no specific intervention. Phenotype reflected cell line distribution. The presence of 45,X cell line explains how X/XY children have abnormalities similar to girls with TS, while presence of Y chromosome explains why they have tomboyish behavior. In conclusion, these children require clinical evaluation similar to that performed in female children with TS, including cardiovascular, renal, endocrine, growth and development, autoimmune, psychological, and educational evaluation. Specific management needs to be tailored to the presence of Y chromosomal material.

Published 14 October 2011 in Eur J Pediatr.
Full-text of this article is available online (may require subscription).

Articles on Turner Syndrome published 14 October 2011:

Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome.   J Gynecol Oncol, 22(3): 211-3.

Two types of gynecologic tumors are commonly described in the Turner syndrome, the first one is gonadoblastoma, which occurs in patients with Y chromosome abnormalities, and the second one is endometrial carcinoma which is mostly related with exogenous estrogen usage. Here, we describe an extremely rare case of squamous cell carcinoma of the vulva in a virgin woman with Turner syndrome. A 35-years old single, virgin woman referred to our Oncology Department with warty, necrotized, exophytic 6-7 ... [Abstract] [Full-text]

Modeling abnormal early development with induced pluripotent stem cells from aneuploid syndromes.   Hum Mol Genet.

Many human diseases share a developmental origin that manifests during childhood or maturity. Aneuploid syndromes are caused by supernumerary or reduced number of chromosomes and represent an extreme example of developmental disease, as they have devastating consequences before and after birth. Investigating how alterations in gene dosage drive these conditions is relevant because it might help treat some clinical aspects. It may also provide explanations as to how quantitative differences in ... [Abstract] [Full-text]

Normal Tempo of Bone Formation in Turner Syndrome despite Signs of Accelerated Bone Resorption.   Horm Res Paediatr, 76(3): 193-201.

Aims: To evaluate area bone mineral density (aBMD) and volumetric BMD (vBMD) by dual-energy X-ray absorptiometry, and relations to bone markers and hormones in adolescent women with Turner syndrome (TS). Methods: Cross-sectional study in TS patients (n = 37, 16.7 ± 3.4 years) and control group (n = 49), assessed by dual-energy X-ray absorptiometry, bone markers and hormones. TS patients were divided into a young group receiving ('ongoing') GH (n = 15) and an older group previously receiving ... [Abstract] [Full-text]

Articles on Turner Syndrome published 13 October 2011:

Apparent Neotelomere in a 46,X,del(X)(qter→p11.2:)/46,X,rea(X)(qter→p11.2::q21.2→qter) Novel Mosaicism: Review of 34 Females with a Recombinant-Like dup(Xq) Chromosome.   Genet Test Mol Biomarkers, 15(10): 727-31.

A 26-year-old woman with secondary amenorrhea and turneroid stigmata was found to have a 46,X,rea(X)(qter→p11.2::q21.2→qter)/46,X,del(X)(qter→p11.2:) mosaicism in 101 G-banded metaphases (71 and 30, respectively). The mother's karyotype was normal (the father was already deceased). A fully skewed inactivation of both abnormal X-chromosomes was documented in RBG-banded metaphases and by means of the HUMARA assay. In addition, the latter revealed that the involved X-chromosome was the ... [Abstract] [Full-text]

Articles on Turner Syndrome published 11 October 2011:

Medical Care of Girls with Turner Syndrome: Where are We Lacking?   Endocr Pract, 17(5): 747-52.

Objective: To characterize the medical care of a large cohort of girls with Turner syndrome with a focus on changes in management since establishment of international consensus guidelines in 2007.Methods: We reviewed medical records of patients followed up for Turner syndrome between 2000 and 2010.Results: A total of 128 girls aged 13.2 ± 0.5 years were identified. Average age at diagnosis was 4.1 ± 5.1 years. Overall, medical assessments performed included a hearing test in 56%, thyroid ... [Abstract] [Full-text]

Articles on Turner Syndrome published 10 October 2011:

Live birth after allografting of ovarian cortex between monozygotic twins with Turner syndrome (45,XO/46,XX mosaicism) and discordant ovarian function.   Fertil Steril.

OBJECTIVE: To report the restoration of ovarian function in a woman with Turner syndrome by allografting ovarian cortex from her monozygotic twin. DESIGN: Case report. SETTING: Gynecology research unit in a university hospital. PATIENT(S): A 37-year-old woman with Turner syndrome who had suffered premature ovarian failure (POF) at the age of 15. INTERVENTION(S): In this woman, we performed ovarian cortex transplantation. The donor was her monozygotic twin who had not experienced POF and who had ... [Abstract] [Full-text]

The role of the SHOX gene in the pathophysiology of Turner syndrome.   Endocrinol Nutr, 58(8): 433-42.

Turner syndrome (TS) affects 1:2500 live females. It is caused by partial or complete absence of a sex chromosome. Patients with deletions of the distal segment of the short arm of X chromosome (Xp-) including haploinsufficiency of the SHOX (short stature homeobox) have, more often, short stature, skeletal abnormalities and hearing impairments. This article evaluates the current knowledge of the SHOX gene role in TS pathophysiology. Articles were searched from MEDLINE and LILACS databases, in ... [Abstract] [Full-text]

Articles on Turner Syndrome published 7 October 2011:

The Rate of Sex Chromosome Aneuploidies in Prenatal Diagnosis and Subsequent Decisions in Western Turkey.   Genet Test Mol Biomarkers.

Aims: Sex chromosome abnormalities (SCAs) are the most common genetic disorder with a frequency of 1/400 or 1/500 live births. In this study we aimed to evaluate the initial indications, frequencies, and pregnancy termination rates of pregnancies with SCAs referred to Ege University Medical Faculty, Department of Medical Genetics. Prenatal diagnosis was performed in 7505 cases in the period of January 1998 through December 2009. Results: In this study, their initial indications and fetal ... [Abstract] [Full-text]

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