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"Turner Syndrome"

Niki Parikh, Robert Grand, Jayne McCauley, Ari Halldorsson, Cynthia Smith
Percutaneous suprapubic cystostomy (SPC) is a procedure performed to manage urinary retention when urethral catheterization is contraindicated or to improve the quality of life in cases such as neurogenic bladder. Although a simple procedure, it is associated with serious complications, increasing the morbidity and mortality. This case study demonstrates a delayed presentation of small bowel obstruction caused by a suprapubic catheter traversing through the ileal mesentery in a patient with no prior bowel surgeries...
March 2018: Urology Case Reports
C Deffrennes, M De Clercq, L Vallée, M-P Lemaître
Problems in mathematics are a frequent major complaint in neuropediatric departments, for which there are two explanatory theoretical models: the hypothesis of a genetic and modular origin (with a number sense deficit) and a multidetermined origin. The purpose of this paper is to review the mathematical difficulties described in Turner syndrome and Fragile X syndrome, because a specific mathematical disorder is usually reported in these populations, supporting the existence of a number sense. Analysis of the literature reveals highly variable cognitive phenotypes in these populations, especially regarding mathematical abilities...
March 14, 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
Honglei Zhang, Xing Yang, Xu Feng, Haibo Xu, Qin Yang, Li Zou, Mei Yan, Dequan Liu, Xiaosan Su, Baowei Jiao
The high-risk of tumor initiation in patients with Turner syndrome (TS) characterized by X chromosome monosomy in women has been well established and aneuploidy, defined as an abnormal number of chromosomes, is a common feature in human cancer. However, the underlying mechanisms of X chromosome aneuploidy promoting tumorigenesis remain obscure. We propose that chromosome-wide gene dosage imbalance (CDI) may serve as an important mechanism. Here, we assess the relative expression ratios of X chromosome and autosomes (expression ratios of X:AA) between tumor samples and adjacent normal samples across 16 tumor types using expression datasets from The Cancer Genome Atlas (TCGA) project...
March 15, 2018: Molecular Genetics and Genomics: MGG
Feng Suo, Chuangxia Wang, Tianya Liu, Yuan Fang, Qin Wu, Maosheng Gu, Lingshan Gou
BACKGROUND: Cell-free fetal DNA are widely used in the prenatal genetic testing during recent years. In the present study, we tried to investigate the clinical practical feasibility of non-invasive prenatal testing (NIPT) for prenatal sex chromosome aneuploidy (SCA) analysis among pregnancies in Xuzhou area of China. METHODS: Among a cohort of 8384 pregnancies, maternal plasma samples from our prenatal diagnosis center was subject to the analysis for SCA using NIPT detection...
March 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Joachim Woelfle, Anders Lindberg, Ferah Aydin, Ken K Ong, Cecilia Camacho-Hubner, Bettina Gohlke
Background: Whether children with chromosomal disorders of growth and puberty are affected by secular trends (STs) as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses. Objectives: The aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS). Study design: Retrospective analysis of KIGS data (Pfizer International Growth Database)...
2018: Frontiers in Endocrinology
Nataliya Zelinska, Iryna Shevchenko, Evgenia Globa
BACKGROUND: We investigated the prevalence of Turner syndrome (TS) in Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls. MATERIAL AND METHODS: A retrospective analyses was made in 538 TS girls aged 0.11-18.2 years old within the period of 2005-2015 with detailed examination of 150 patients. RESULTS AND DISCUSSION: The prevalence of TS in Ukraine is 77...
February 28, 2018: Journal of Clinical Research in Pediatric Endocrinology
Peter Murin, Nicodème Sinzobahamvya, Antonia Schulz, Victoria Lorenzen, Stanislav Ovroutski, Felix Berger, Joachim Photiadis, Mi-Young Cho
OBJECTIVES: The technique of subcoronary autograft implantation for the Ross procedure has shown excellent durability of aortic valve function in adults. However, its use in children with hypoplastic aortic annulus or multilevel left ventricular outflow tract obstruction (LVOTO) was traditionally precluded. We combined this technique with a Konno incision and evaluated LVOTO relief and durability of the autograft function in growing patients. METHODS: Between January 2012 and January 2017, 13 patients with severe LVOTO and hypoplastic aortic annulus underwent Ross-Konno procedure with subcoronary autograft implantation...
March 9, 2018: Interactive Cardiovascular and Thoracic Surgery
Wacław Jeż, Beata Tobiasz-Adamczyk, Piotr Brzyski, Mikołaj Majkowicz, Piotr Pankiewicz, Tomasz J Irzyniec
BACKGROUND: Turner syndrome (TS) appears in women as a result of the lack of part or the whole of one of the X chromosomes. It is characterized by the occurrence of low height, hypogonadism, numerous developmental defects, and is often accompanied by psychological disturbances. OBJECTIVES: Although the phenotype characteristics of women with TS are quite well documented, the knowledge of the impact of Turner syndrome on the satisfaction with life is still insufficient...
February 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
Dan Xue, Dong-Hua Cao, Kai Mu, Yuan Lv, Jun Yang
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal disorder. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported. Here, we report a fetus with a mosaic karyotype: mos 45,X/46,X,del(Y)(q11.21). The fetus was initially misdiagnosed as female with Turner syndrome by both noninvasive prenatal testing and cytogenetic analysis of amniotic fluid and was subsequently found to have male anatomy by antenatal ultrasonography at 24 weeks gestational age...
March 8, 2018: Journal of Obstetrics and Gynaecology Research
Kunihiko Hanew, Toshiaki Tanaka, Reiko Horikawa, Tomonobu Hasegawa, Susumu Yokoya
The reported prevalence of complications in Turner Syndrome (TS) was highly variable because of the rarity and the limited numbers analyzed. Again, possible presence of other complications that are not described as specific for TS, is also speculated. To resolve these issues, a questionnaire survey was conducted in hGH treated 492 patients with adult TS (17-42 years). The possible association with these complications and karyotypes were also analyzed. The complications and their prevalence were as follows: chronic thyroiditis (25...
March 7, 2018: Endocrine Journal
Diana-Alexandra Ertl, Andreas Gleiss, Katharina Schubert, Caroline Culen, Peer Hauck, Johannes Ott, Alois Gessl, Gabriele Haeusler
BACKGROUND: Previous studies have shown that only a minority of patients with Turner syndrome (TS) have adequate medical care after transfer to adult care. AIM OF THIS STUDY: To assess the status of medical care and quality of life (QoL) in adult women diagnosed with TS and followed-up until transfer. To compare the subjective and objective view of the medical care quality and initiate improvements based on patients' experiences and current recommendations. METHODS: 39 adult women with TS out of 64 patients contacted were seen for a clinical and laboratory check, cardiac ultrasound, standardized and structured questionnaires (SF-36v2 and Beck depression inventory)...
March 7, 2018: Endocrine Connections
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
Yael Lebenthal, Sigal Levy, Efrat Sofrin-Drucker, Nessia Nagelberg, Naomi Weintrob, Shlomit Shalitin, Liat de Vries, Ariel Tenenbaum, Moshe Phillip, Liora Lazar
Objective: Patients with Turner syndrome (TS) are at increased risk for metabolic disorders. We aimed to delineate the occurrence and evolution of metabolic comorbidities in TS patients and to determine whether these differ in 45,X monosomy and other karyotypes. Methods: A longitudinal and cross-sectional retrospective cohort study was conducted in a tertiary pediatric endocrine unit during 1980-2016. Ninety-eight TS patients, 30 with 45,X monosomy were followed from childhood to early adulthood...
2018: Frontiers in Endocrinology
Aneta Monika Gawlik, Magdalena Hankus, Kamila Szeliga, Aleksandra Antosz, Tomasz Gawlik, Kamil Soltysik, Agnieszka Drosdzol-Cop, Krzysztof Wilk, Grzegorz Kudela, Tomasz Koszutski, Ewa Malecka-Tendera
Objective: Estrogen replacement therapy (ERT) for Turner syndrome (TS) is a widely discussed topic; however, the optimal model of ERT for patients with delayed diagnosis and/or initiation of therapy is still unclear, mainly due to insufficient data. We present the results of a prospective observational single-center study in which the efficacy of late-onset puberty induction by one-regimen transdermal ERT in TS girls was evaluated. Methods: The analysis encompassed 49 TS girls (63...
2018: Frontiers in Endocrinology
Ai Sakamoto, Yasuhiko Kamada, Kotaro Kubo, Toru Hasegawa, Sayoko Kotani, Mikiya Nakatsuka, Yuji Hiramatsu
Establishing whether miscarriages result from fetal aneuploidy or other factors is important for treating recurrent pregnancy loss. We examined the relationship between fetal heart rate (FHR) before miscarriage in the early first trimester and fetal karyotype, analyzing 223 pregnant women with recurrent pregnancy loss. Among the pregnancies, 110 resulted in live births regarded as normal karyotype (the Norm-group). The other 113 pregnancies ended in miscarriage, and we categorized them into groups based on fetal karyotype, determined by chorionic villus sampling: the Misc-NK (normal karyotype) group, n=35 euploid cases; the Misc-CA1 (chromosomal abnormality) group, n=18 cases of aneuploidy with trisomies 13/18/21, Turner's syndrome, or Klinefelter's syndrome; and the Misc-CA2 subgroup, n=60 cases of other aneuploidies excluding those in the Misc-CA1 group...
February 2018: Acta Medica Okayama
Darryl B Sneag, Schneider K Rancy, Scott W Wolfe, Susan C Lee, Vivek Kalia, Steve K Lee, Joseph H Feinberg
INTRODUCTION: The aim of this study was to characterize lesion distribution in Parsonage-Turner Syndrome (PTS) using high-resolution MRI. METHODS: The MRIs of 27 patients with clinically confirmed PTS were reviewed. Two radiologists independently evaluated the brachial plexus proper, side and terminal plexus branches, and more distal, upper extremity nerves. RESULTS: All patients had at least 1 clinically involved nerve. On MRI, the plexus appeared normal in 24/27 patients; in 3 others, signal hyperintensity was seen immediately proximal to the take-off of abnormal side or terminal branch nerves...
February 20, 2018: Muscle & Nerve
Christopher R Broda, Antonio G Cabrera, Joseph W Rossano, John L Jefferies, Jeffrey A Towbin, Clifford Chin, Pirouz Shamszad
BACKGROUND: The purpose of this study was to describe the prevalence, characteristics, and outcomes in pediatric patients with chromosomal anomalies (CA) undergoing orthotopic heart transplantation (OHT). METHODS: A query of the database of the Pediatric Health Information System, a large administrative and billing database of 43 tertiary children's hospitals, was performed for the Years 2004 to 2016. Pediatric patients who received OHT were analyzed based on presence and type of CA...
January 31, 2018: Journal of Heart and Lung Transplantation
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
Karen O Klein, Robert Rosenfield, Richard J Santen, Aneta Gawlik, Philippe Backeljauw, Claus H Gravholt, Theo Sas, Nelly Mauras
Context: Most girls with Turner Syndrome have hypergonadotropic hypogonadism and need hormonal replacement - for induction of puberty and later maintaining secondary sex characteristics, attaining peak bone mass, and uterine growth. The optimal estrogen replacement regimen is still being studied. Evidence Acquisition: We conducted a systematic search of PubMed for research related to TS and puberty, including key words: estrogen, growth, puberty. Evidence Synthesis: The goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks...
February 8, 2018: Journal of Clinical Endocrinology and Metabolism
Uma Kaimal Saikia, Dipti Sarma, Yogesh Yadav
Background: Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center...
October 2017: Journal of Human Reproductive Sciences
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