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A pharmacogenomic approach to the treatment of children with growth hormone deficiency or Turner syndrome.
CONCLUSIONS: Carriage of specific growth-related genetic markers is associated with growth response in GHD and TS. These findings indicate that pharmacogenomics could have a role in individualized management of childhood growth disorders. PMID: 23761422 [PubMed - as supplied by publisher] (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - June 12, 2013 Category: Endocrinology Authors: Clayton PE, Chatelain P, Tato L, Yoo HW, Ambler GR, Belgorosky A, Quinteiro S, Deal C, Stevens A, Raelson J, Croteau P, Destenaves B, Olivier C Tags: Eur J Endocrinol Source Type: research
First-trimester assessment of the nasal bone using the retronasal triangle view. A prospective study.
CONCLUSIONS: The RNT view is a useful technique for assessing the NB during the first trimester. With this new approach, performance of absent/hypoplastic NB as a marker of aneuploidy, mainly trisomy 21, appears to be similar to that previously reported by using the midsagittal plane. PMID: 23733531 [PubMed - as supplied by publisher] (Source: The Ultrasound Review of Obstetrics and Gynecology)
Source: The Ultrasound Review of Obstetrics and Gynecology - June 3, 2013 Category: Radiology Authors: Adiego B, Martinez-Ten P, Illescas T, Bermejo C, Sepulveda W Tags: Ultrasound Obstet Gynecol Source Type: research
First‐trimester assessment of the nasal bone using the retronasal triangle view. A prospective study
ConclusionsThe RNT view is a useful technique for assessing the NB during the first trimester. With this new approach, performance of absent/hypoplastic NB as a marker of aneuploidy, mainly trisomy 21, appears to be similar to that previously reported by using the midsagittal plane. (Source: Ultrasound in Obstetrics and Gynecology)
Source: Ultrasound in Obstetrics and Gynecology - June 3, 2013 Category: Radiology Authors: B. Adiego, P. Martinez‐Ten, T. Illescas, C. Bermejo, W. Sepulveda Tags: Original Article Source Type: research
Late presentation of simple virilising 21-hydroxylase deficiency in a Chinese woman with Turner's syndrome.
We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentation was recognised due to his exceptionally short stature and persistent sexual ambiguity. His condition was only brought to medical attention as he developed a huge abdominal mass, which later turned out to be a benign ovarian mucinous cyst. It is therefore important to look out for co-existing congenital adrenal hyperplasia in patients with Turner's syndrome and virilisation, after the presence of Y chromosome material ha...
Source: Hong Kong Med J - June 1, 2013 Category: Journals (General) Authors: Lee KF, Chan AO, Fok JM, Mak MW, Yu KC, Lee KM, Shek CC Tags: Hong Kong Med J Source Type: research
[Diagnosis and management of amenorrhea in adolescent girls.]
Abstract Amenorrhea in adolescents can be primary, with or without breast development, or secondary. Whether amenorrhea is primary or secondary, height, body mass index, food intake, the level of physical activity per week, the presence of hirsutism or galactorrhea, pelvic pain and past history of intercourse need to be investigated. Initially, blood tests should include hCG, FSH, estradiol, testosterone and prolactin serum levels. This screening will discriminate between hypogonadotropic hypogonadism and amenorrhea from primary ovarian insufficiency (POI). In case of primary amenorrhea, hypogonadism may be due to ...
Source: Archives de Pediatrie - May 30, 2013 Category: Pediatrics Authors: Laroche E, Bricaire L, Christin-Maitre S Tags: Arch Pediatr Source Type: research
GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial.
Conclusions:GH treatment in short children with SHOX deficiency showed similar long-term efficacy as seen in girls with Turner syndrome. PMID: 23720786 [PubMed - as supplied by publisher] (Source: The Journal of Clinical Endocrinology and Metabolism)
Source: The Journal of Clinical Endocrinology and Metabolism - May 29, 2013 Category: Endocrinology Authors: Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, Deal C, Drop SL, Rappold G, Cutler GB Tags: J Clin Endocrinol Metab Source Type: research
Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study
This study also lacks an appropriate control group. WIDER IMPLICATIONS OF THE FINDINGS This study suggests that cardiovascular evaluation before and during pregnancy may contribute to favourable obstetric outcomes in many cases. Maternal outcomes were in agreement with the literature while neonatal outcomes were generally better than previously reported. The outcomes were consistent across the three countries, supporting generalizability to similar populations. STUDY FUNDING/COMPETING INTEREST(S) No conflict of interest was reported. The study was supported by grants from the Gothenburg Medical Society, the Medical Care ...
Source: Human Reproduction - May 18, 2013 Category: Reproduction Medicine Authors: Hagman, A., Loft, A., Wennerholm, U.-B., Pinborg, A., Bergh, C., Aittomaki, K., Nygren, K.-G., Bente Romundstad, L., Hazekamp, J., Soderstrom-Anttila, V. Tags: Infertility Source Type: research
Cervical characteristics of Noonan syndrome.
Conclusion/ImplicationThese results suggest that basilar impression may be a frequently found symptom of NS. PMID: 23660838 [PubMed - as supplied by publisher] (Source: European Journal of Orthodontics)
Source: European Journal of Orthodontics - May 9, 2013 Category: Dentistry Authors: Miyamoto JJ, Yabunaka T, Moriyama K Tags: Eur J Orthod Source Type: research
Magnetic resonance imaging (MRI) in paediatric psychoneuroendocrinology: a new frontier for understanding the impact of hormones on emotion and cognition
This article is protected by copyright. All rights reserved. (Source: Journal of Neuroendocrinology)
Source: Journal of Neuroendocrinology - May 9, 2013 Category: Endocrinology Authors: Sven C. Mueller Tags: Young Investigator Perspective Source Type: research
Noonan Syndrome Helped Long Term by Growth Hormone (CME/CE)
WASHINGTON (MedPage Today) -- Children with the genetic disorder Noonan syndrome, characterized by short stature and organ abnormalities, had a more lasting response to growth hormone therapy than did those with the similar but distinct Turner syndrome, a researcher said here. (Source: MedPage Today Primary Care)
Source: MedPage Today Primary Care - May 6, 2013 Category: Primary Care Source Type: news
National Centers Needed to Aid Transition in Turner SyndromeNational Centers Needed to Aid Transition in Turner Syndrome
Girls with Turner Syndrome require lifelong care, with adequate screening for a range of comorbidities, including cardiovascular-disease risk factors, to ensure good quality of life, says one expert. Medscape Medical News (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - May 3, 2013 Category: Consumer Health News Tags: Diabetes & Endocrinology News Source Type: news
Validation of targeted sequencing of single‐nucleotide polymorphisms for non‐invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
ConclusionscfDNA testing in maternal blood using targeted sequencing of polymorphic loci at chromosomes 13, 18, 21, X, and Y holds promise for accurate detection of fetal autosomal trisomies, sex chromosome aneuploidies, and triploidy. © 2013 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - April 24, 2013 Category: Perinatology & Neonatology Authors: K. H. Nicolaides, A. Syngelaki, M. Gil, V. Atanasova, D. Markova Tags: Original Article Source Type: research
Constitutional Telomeric Association (Y;7) in a Patient With a Female Phenotype
We report on the cytogenetic and molecular analyses of a TA involving chromosomes Y and 7 in a child with a female phenotype. Prenatal cytogenetic analysis showed a 45,X chromosome complement in all cells. No fetal abnormality was identified at ultrasound examinations and the pregnancy went to term. During childhood, the proband had gonadal dysgenesis but no other phenotypic manifestations of Turner syndrome. Molecular genetic analyses showed the presence of genomic DNA of the SRY gene without any mutation. Karyotyping and fluorescent in situ hybridization (FISH) analyses on blood showed two cell lines: one cell line with ...
Source: American Journal of Medical Genetics Part A - April 23, 2013 Category: Genetics & Stem Cells Authors: Claire Beneteau, Sabine Baron, Albert David, Frédérique Jossic, Damien Poulain, Sébastien Schmitt, Marc‐David Leclair, Philippe Piloquet, Cédric Le Caignec Tags: Clinical Report Source Type: research
Pharmacogenomics of insulin-like growth factor-I generation during GH treatment in children with GH deficiency or Turner syndrome
eulle, J Raelson & P Chatelain (Source: The Pharmacogenomics Journal)
Source: The Pharmacogenomics Journal - April 9, 2013 Category: Drugs & Pharmacology Authors: A StevensP ClaytonL TatòH W YooM D Rodriguez-ArnaoJ SkorodokG R AmblerM ZignaniJ ZieschangG Della CorteB DestenavesA ChampigneulleJ RaelsonP Chatelain Tags: genetic association gene expression growth hormone genetic marker insulin-like growth factor-I Source Type: research
Congenital hypogonadisms impair quality of life and sexual function: Ros et al
The article below summarizes a roundtable discussion of a study published in this issue of the Journal in light of its methodology, relevance to practice, and implications for future research. Article discussed: Ros C, Alobid I, Balasch J, et al. Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function. Am J Obstet Gynecol 2013;208:484.e1-6. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - April 8, 2013 Category: OBGYN Authors: Camaryn Chrisman Robbins, Morgan Wolfe, Kathryn Squires, Emily Jungheim, Linda Weiner Tags: Journal Club Source Type: research
Discussion: ‘Congenital hypogonadisms impair quality of life and sexual function,’ by Ros et al
In the roundtable that follows, clinicians discuss a study published in this issue of the Journal in light of its methodology, relevance to practice, and implications for future research. Article discussed: Ros C, Alobid I, Balasch J, et al. Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function. Am J Obstet Gynecol 2013;208:484.e1-6. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - April 8, 2013 Category: OBGYN Authors: Camaryn Chrisman Robbins, Morgan Wolfe, Kathryn Squires, Emily Jungheim, Linda Weiner Tags: Journal Club Roundtable Source Type: research
An evaluation of early cardiometabolic risk factors in children and adolescents with Turner syndrome
ConclusionsTS girls exhibit more cardiometabolic risk factors and reduced beta cell function compared with age‐ and BMI‐SDS‐matched girls. Increased awareness of early risk of type 2 diabetes mellitus and hypertension in TS girls is needed. (Source: Clinical Endocrinology)
Source: Clinical Endocrinology - April 6, 2013 Category: Endocrinology Authors: Clodagh S. O'Gorman, Catriona Syme, Jun Lang, Timothy J. Bradley, Greg D. Wells, Jill K. Hamilton Tags: Original Article Source Type: research
Poor socio-economic status in 47,XXX - An unexpected effect of an extra X chromosome.
Abstract One of the most common sex chromosomal abnormalities in females is 47,XXX syndrome, which is characterized by tall stature and reduced IQ, but with a variable phenotype. In order to elaborate on the characteristics of this syndrome, we undertook an investigation in all diagnosed 47,XXX females at risk in Denmark and compared their socio-economic status with an age-matched cohort of the female background population as well as with all Danes diagnosed with Turner syndrome. We focused on cohabitation, motherhoods, income, education, retirement and convictions. Furthermore, we investigated whether some of thes...
Source: European Journal of Medical Genetics - March 28, 2013 Category: Genetics & Stem Cells Authors: Stochholm K, Juul S, Gravholt CH Tags: Eur J Med Genet Source Type: research
Childhood Lichen Sclerosus—A Challenge for Clinicians
The objective of our study was to define the background and the long‐term course of childhood LS. A registery study identified 44 children with LS treated at Tampere University Hospital, Tampere, Finland, from 1982 to 2010. A questionnaire was sent to the identified patients and 15 responded. The clinical depiction of LS varied significantly. LS was diagnosed in only 16% of the patients at the referring unit. Autoimmune disorders were observed in 6 of the 44 patients. High prevalences of Turner's syndrome (2/44) and kidney disease (2/44) were noted. The majority of the patients were treated with topical corticosteroids. ...
Source: Pediatric Dermatology - February 26, 2013 Category: Dermatology Authors: Maria Lagerstedt, Kaisa Karvinen, Minna Joki‐Erkkilä, Riitta Huotari‐Orava, Erna Snellman, Satu‐Leena Laasanen Tags: Clinical and Laboratory Investigation Source Type: research
High Levels of Education and Employment Among Women with Turner Syndrome
Journal of Women's Health , Vol. 0, No. 0. (Source: Journal of Women)
Source: Journal of Women - February 19, 2013 Category: OBGYN Tags: article Source Type: research
Post-Operative Parsonage Turner Syndrome: A Ghost of Christmas Past? (P01.134)
CONCLUSIONS: PTS can be a difficult syndrome to diagnose. The exact cause is unknown but many factors are thought to influence its development, including trauma, infection, viral disease, heavy exercise, immunization, and autoimmune conditions. We believe that post-operative patients are at risk for developing brachial neuritis. Only two other post-operative PTS caes have been described in the literature but we suspect that many more exist but are not acknowledged due to lack of recognition of this phenomenon. Literature suggests that the stres of surgery may activate an unidentified virus lying dormant in nerve roots. The...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Shetty, T., Villegas, C., Voigt, N. Tags: P01 Peripheral Nerve: Acute Inflammatory and Nutritional Source Type: research
Palatal height and dental arch dimensions in Turner syndrome karyotypes.
Abstract The aim of this project was to study the impact from Turner syndrome (TS) karyotype and age on dental arch morphology and palatal height and to compare the variables in TS with reference data from non-TS females with normal occlusion. Plaster casts from 76 females with TS (6-50 years) were analysed with respect to dentoalveolar arch dimensions and palatal height. The TS females were divided into the karyotype categories: i) 45,X ii) 45,X/46,XX iii) isochromosome, and iv) other.The 45,X/46,XX karyotype exhibited fewer statistically significant variables differing from the reference group compared with other...
Source: European Journal of Orthodontics - February 8, 2013 Category: Dentistry Authors: Rizell S, Barrenäs ML, Andlin-Sobocki A, Stecksén-Blicks C, Kjellberg H Tags: Eur J Orthod Source Type: research
X‐Linked Dystonia‐Parkinsonism Manifesting in a Female Patient Due to Atypical Turner Syndrome
ConclusionsOur female X‐linked dystonia‐parkinsonism patient suffered from an undiagnosed X‐chromosome monosomy in a subset of cells (45,X/46,XX), suggesting an atypical Turner syndrome and contributing the first molecular explanation for the manifestation of an X‐linked dystonia‐parkinsonism phenotype in women. © 2013 Movement Disorder Society (Source: Movement Disorders)
Source: Movement Disorders - February 6, 2013 Category: Neurology Authors: Ana Westenberger, Raymond L. Rosales, Sascha Heinitz, Karen Freimann, Lilian V. Lee, Roland D. Jamora, Arlene R. Ng, Aloysius Domingo, Katja Lohmann, Uwe Walter, Uta Gölnitz, Arndt Rolfs, Inga Nagel, Gabriele Gillessen‐Kaesbach, Reiner Siebert, Dirk Dr Tags: Brief Report Source Type: research
Physical fitness of schoolgirls with turner syndrome.
Abstract The aim of the study was to assess physical fitness of girls with Turner syndrome (TS) and to determine the relative contributions of age, body height, and body mass to performance in fitness tests. Girls with TS aged 10-18 years (n = 184), and age- and stature-matched healthy controls (n = 280) were studied with the use of the EUROFIT test battery. Girls with TS were significantly inferior to the control group in maintaining balance, standing broad jump, sit-ups, shuttle run, and endurance shuttle run (p < .001). No significant differences were found for plate tapping, but girls with TS were superior t...
Source: Pediatric Exercise Science - February 1, 2013 Category: Pediatrics Authors: Milde K, Tomaszewski P, Stupnicki R Tags: Pediatr Exerc Sci Source Type: research
Spontaneous puberty in girls with early diagnosis of Turner syndrome
CONCLUSIONS: The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism. Arq Bras Endocrinol Metab. 2012;56(9):653-7OBJETIVO: Verificar se a frequência de puberdade espontânea em meninas com síndrome de Turner (ST) diagnosticadas na infância é superior a de pacientes diagnosticadas posteriormente. SUJEITOS E MÉTODOS: Foram avaliadas 33 meninas < 10 anos ao diagnóstico quanto ao desenvolvimento puberal. A frequência de puberdade espontânea foi comparada com a de pacientes com ma...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 18, 2013 Category: Endocrinology Source Type: research
Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function
Conclusion: TS and OCH subjects presented impaired physical domains in QOL. Women with TS are less likely to be involved in sexual activity, arousal dysfunctions being their main symptom. Conversely, arousal, orgasm, pain, and total score were significantly affected in OCH subjects. (Source: American Journal of Obstetrics and Gynecology)
Source: American Journal of Obstetrics and Gynecology - January 14, 2013 Category: OBGYN Authors: Cristina Ros, Isam Alobid, Juan Balasch, Joaquim Mullol, Camil Castelo-Branco Tags: Reproductive Endocrinology and Infertility Source Type: research
The use of fluorescence in situ hybridization in the diagnosis of hidden mosaicism: apropos of three cases of sex chromosome anomalies
FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FIS...
Source: Arquivos Brasileiros de Endocrinologia e Metabologia - January 8, 2013 Category: Endocrinology Source Type: research
Implications of parent and child quality of life assessments for decisions about growth hormone treatment in eligible children
ConclusionsDecisions to prescribe GHT should include children's perspectives of HRQL whenever possible. Differences between parents and children are most likely in conditions that involve more complex medical needs (AGHD and Turner's). Generic and disease‐specific HRQL measures may vary in sensitivity to HRQL differences between groups. More work is required to evaluate HRQL among younger children. (Source: Child: Care, Health and Development)
Source: Child: Care, Health and Development - January 7, 2013 Category: Child Development Authors: S. C. Otero, C. Eiser, N. P. Wright, G. Butler Tags: Original Article Source Type: research
An association of craniopharyngioma in turner syndrome
We present three cases of TS with CP, an association not previously described. Visual failure, poor growth or headache led to MRI diagnosis of CP. Whilst two had evidence of hypopituitarism at diagnosis of CP, they all developed hypopituitarism following surgical debulking. Two required radiotherapy due to regrowth. Whether CP and TS share a similar aetiology is unknown. Clinicians need to be aware of this association, and should perform urgent MRI scanning in TS patients with headache, visual impairment or clinical/biochemical evidence of hypopituitarism. Pediatr Blood Cancer © 2012 Wiley Periodicals, Inc. (Source: Pedia...
Source: Pediatric Blood and Cancer - December 19, 2012 Category: Cancer & Oncology Authors: Aqeel Farooque, Navoda Atapattu, Sujeewa Amarasena, Wolfgang Högler, Martin W. English, Jeremy M.W. Kirk Tags: Brief Report Source Type: research
Pustular psoriasis in a patient with Turner syndrome: profile of serum cytokine levels
(Source: International Journal of Dermatology)
Source: International Journal of Dermatology - December 11, 2012 Category: Dermatology Authors: Akihiko Asahina, Kazuko Uno, Hideki Fujita Tags: Correspondence Source Type: research
Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrhea
ConclusionA considerable proportion of women with primary amenorrhea had chromosomal abnormalities. Mean age at testing was late suggesting delay in referral for karyotyping. Early referral for cytogenetic evaluation is recommended for the identification of underlying chromosomal aberrations in women with primary amenorrhea. (Source: Journal of Obstetrics and Gynaecology Research)
Source: Journal of Obstetrics and Gynaecology Research - December 1, 2012 Category: OBGYN Authors: Lasitha Samarakoon, Nirmala D. Sirisena, Kalum T. Wettasinghe, Kariyawasam Warnakulathanthrige Jayani C. Kariyawasam, Rohan W. Jayasekara, Vajira H. W. Dissanayake Tags: Original Article Source Type: research
Assessing and addressing cardiovascular risk in adults with Turner Syndrome
Abstract Turner Syndrome (TS), the result of a structurally abnormal or absent X chromosome, occurs in one in 2000 live born females. The phenotype is highly variable, but short stature and gonadal dysgenesis are usually present. The main objective in adults with TS is health surveillance, but TS still causes a reduction in life expectancy of up to 13 years, with cardiovascular disease, congenital or acquired, as the major cause of an early death. While it has been established that all women with TS should undergo in‐depth cardiovascular examination at diagnosis, advice on the cardiovascular management of women with TS i...
Source: Clinical Endocrinology - November 22, 2012 Category: Endocrinology Authors: Emma J Turtle, Ashish A Sule, Louise E Bath, Martin Denvir, Ailsa Gebbie, Saeed Mirsadraee, David J Webb Tags: 5 Unsolicited Review Source Type: research
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype
Background: The presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. The Sex determining Region on the Y gene (SRY) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. Mutations in this gene are responsible ...
Source: BMC Medical Genetics - Latest articles - November 16, 2012 Category: Genetics & Stem Cells Authors: Remko HersmusHans StoopErin TurbittJ OosterhuisStenvert DropAndrew SinclairStefan WhiteLeendert Looijenga Source Type: research
Carotid intima‐media thickness is increased in Turner syndrome: multifactorial pathogenesis depending on age, blood pressure, cholesterol and oestrogen treatment
Conclusion Carotid IMT was abnormal in TS and negatively influenced by age, metabolic biomarkers, blood pressure and short duration of oestrogen treatment. Attention to common cardiovascular and endocrine risk markers over more than 2 years appeared to influence IMT beneficially. (Source: Clinical Endocrinology)
Source: Clinical Endocrinology - November 9, 2012 Category: Endocrinology Authors: Kristian H. Mortensen, Niels H. Andersen, Britta E. Hjerrild, Arne Hørlyck, Kirstine Stochholm, Claus Højbjerg Gravholt Tags: ORIGINAL ARTICLE Source Type: research
White Matter Aberrations in Prepubertal Estrogen-Naive Girls with Monosomic Turner Syndrome
In this study, we used 3 complementary analyses of diffusion tensor imaging (DTI) data (whole brain, region of interest, and fiber tractography) and a whole brain volumetric imaging technique to investigate white matter (WM) structure in prepubertal, nonmosaic, estrogen-naive girls with TS compared with age and sex matched typically developing controls. The TS group demonstrated significant WM aberrations in brain regions implicated in visuospatial abilities, face processing, and sensorimotor and social abilities compared with controls. Extensive spatial overlap between regions of aberrant WM structure (from DTI) and regio...
Source: Cerebral Cortex - November 7, 2012 Category: Neurology Authors: Yamagata, B., Barnea-Goraly, N., Marzelli, M. J., Park, Y., Hong, D. S., Mimura, M., Reiss, A. L. Tags: Articles Source Type: research
Total Anomalous Pulmonary Venous Connection to the Unroofed Coronary Sinus in a Neonate
This report describes the unique case of a newborn with total anomalous pulmonary venous connection to an unroofed coronary sinus associated with Ullrich-Turner syndrome and aortic coarctation. Total anomalous pulmonary venous connection to the unroofed coronary sinus is an extremely uncommon cardiac abnormality. This congenital heart disease is difficult to diagnose and rarely ever reported. Few symptoms are to be expected when it is not associated with other congenital heart defects. This lesion results in a “naturally” corrected total anomalous pulmonary venous return and a coronary sinus atrial septal defect pr...
Source: Pediatric Cardiology - October 26, 2012 Category: Cardiology Tags: Pediatric Cardiology Source Type: research
Precocious puberty in Turner Syndrome: report of a
case and review of the literature
Conclusion: Our case highlights the possibility of precocious puberty as an atypical clinical feature of TS.Thus, precocious puberty may occur in TS girls when a dosage compensation by the cell linewith more than two X chromosomes allows normal ovarian function. GnRH analog therapyin addition to GH treatment should be recommended in TS girls with precocious puberty inorder to slow pubertal progression and to preserve adult stature. (Source: BioMed Central)
Source: BioMed Central - October 17, 2012 Category: Journals (General) Authors: Nicola ImprodaMartina RezzutoSara AlfanoGiancarlo ParentiPietro VajroClaudio PignataMariacarolina Salerno Source Type: research
Long-term effects of previous Oxandrolone treatment in adult women with Turner syndrome.
CONCLUSION Ox 0.03 mg/kg/day has a beneficial effect on adult height gain in TS patients. Despite previously reported deceleration of breast development during Ox 0.03 treatment, adult breast size is not affected. Mild virilisation persists in only a small minority of the patients. The long-term evaluation indicates that Ox 0.03 treatment is effective and safe. PMID: 23076845 [PubMed - as supplied by publisher] (Source: European Journal of Endocrinology)
Source: European Journal of Endocrinology - October 17, 2012 Category: Endocrinology Authors: Freriks K, Sas TC, Traas MA, Netea-Maier RT, Den Heijer M, Hermus A, Wit JM, van Alfen-van der Velden JA, Otten BJ, De Muinck Keizer-Schrama S, Gotthardt M, Dejonckere PH, Zandwijken GR, Menke LA, Timmers HJ Tags: Eur J Endocrinol Source Type: research
Precocious puberty in Turner Syndrome: report of a case and review of the literature
Conclusion: Our case highlights the possibility of precocious puberty as an atypical clinical feature of TS.Thus, precocious puberty may occur in TS girls when a dosage compensation by the cell linewith more than two X chromosomes allows normal ovarian function. GnRH analog therapyin addition to GH treatment should be recommended in TS girls with precocious puberty inorder to slow pubertal progression and to preserve adult stature. (Source: Italian Journal of Pediatrics)
Source: Italian Journal of Pediatrics - October 17, 2012 Category: Pediatrics Authors: Nicola ImprodaMartina RezzutoSara AlfanoGiancarlo ParentiPietro VajroClaudio PignataMariacarolina Salerno Source Type: research
Detailed Clinical and Molecular Study of 20 Females with Xq Deletions with Special Reference to Menstruation and Fertility.
Abstract Integrity of the long arm of the X chromosome is important for maintaining female fertility and several critical regions for normal ovarian function have been proposed. In order to understand further the importance of specific areas of the X chromosome, we describe a series of 20 previously unreported patients missing part of Xq in whom detailed phenotypic information has been gathered as well as precise chromosome mapping using array Comparative Genomic Hybridization. Features often associated with Turner syndrome were not common in our study and excluding puberty, menarche and menstruation, the phenotype...
Source: European Journal of Medical Genetics - October 8, 2012 Category: Genetics & Stem Cells Authors: Mercer CL, Lachlan K, Karcanias A, Affara N, Huang S, Jacobs PA, Thomas NS Tags: Eur J Med Genet Source Type: research
Liver Involvement in Turner syndrome
Abstract Liver test abnormalities are frequent in adult patients with Turner syndrome, corresponding to various pathophysiological mechanisms. Steatosis, steatofibrosis and steatohepatitis are the most frequently reported lesions, caused by metabolic disorders, which are commonly related to overweight. Marked architectural changes, including nodular regenerative hyperplasia, multiple focal nodular hyperplasia and cirrhosis, found in some patients, are associated with a risk of severe liver‐related complications. Architectural changes are often observed and are associated with vascular disorders caused by congenitally abn...
Source: Liver International - October 5, 2012 Category: Gastroenterology Authors: Dominique Roulot Tags: Reviews Source Type: research
Moderate Aortic Enlargement and Bicuspid Aortic Valve are Associated with Aortic Dissection in Turner Syndrome: Report of the International Turner Syndrome Aortic Dissection Registry.
CONCLUSIONS: Aortic dissection in TS occurs in young individuals at smaller aortic diameters than the general population or other forms of genetically triggered aortopathy. The absence of aortic valve or other cardiac malformations appears to markedly reduce the risk of aortic dissection However, aortic dissection can occur in TS without cardiac malformations or hypertension. TS individuals > 18 years with an ASI-AAO above 2.5 cm/m(2) should be considered for an aortic operation to prevent aortic dissection. PMID: 23032325 [PubMed - as supplied by publisher] (Source: Circulation)
Source: Circulation - October 2, 2012 Category: Cardiology Authors: Carlson M, Airhart N, Lopez L, Silberbach M Tags: Circulation Source Type: research
[Analysis of two cases of Turner syndrome with 45,X/46,XY karyotype].
We report two cases of Turner syndrome with a female phenotype and a 45,X(22)/46,XY(88) karyotype. The relevant literatures in relation to the incidence, pathogenesis, clinical manifestations and managements of Turner syndrome with a 45,X/46,XY karyotype were reviewed. PMID: 23076193 [PubMed - in process] (Source: Journal of Southern Medical University)
Source: Journal of Southern Medical University - October 1, 2012 Category: Universities & Medical Training Authors: Mao XJ, Liu L Tags: Nan Fang Yi Ke Da Xue Xue Bao Source Type: research
Update on Turner and Noonan Syndromes
This article reviews these two syndromes and provides updates on recent developments in diagnostic evaluation, growth and development, psychological issues, and treatment options for patients with TS and NS. (Source: Endocrinology and Metabolism Clinics of North America)
Source: Endocrinology and Metabolism Clinics of North America - October 1, 2012 Category: Endocrinology Authors: Elizabeth Chacko, Evan Graber, Molly O. Regelmann, Elizabeth Wallach, Gertrude Costin, Robert Rapaport Source Type: research
Undetected sex chromosome aneuploidy by chromosomal microarray
We report on a case of a female fetus found to be mosaic for Turner syndrome (45,X) and trisomy X (47,XXX). Chromosomal microarray analysis (CMA) failed to detect the aneuploidy because of a normal average dosage of the X chromosome. This case represents an unusual instance in which CMA may not detect chromosomal aberrations. Such a possibility should be taken into consideration in similar cases where CMA is used in a clinical setting. © 2012 John Wiley & Sons, Ltd. (Source: Prenatal Diagnosis)
Source: Prenatal Diagnosis - October 1, 2012 Category: Perinatology & Neonatology Authors: Keren Markus‐Bustani, Yuval Yaron, Myriam Goldstein, Avi Orr‐Urtreger, Shay Ben‐Shachar Tags: Research Letter Source Type: research
Reproductive medicine and Turner syndrome: ethical issues
This article discusses the ethical issues raised by the medical responses to Turner syndrome (TS). It explores the issues and challenges faced by women with Turner, and by prospective parents of a child with Turner. It focuses on four issues: the use of GH to increase height; the use of third-party oocytes to enable women with Turner to become pregnant; the parental decision to remove and cryopreserve ovarian tissue from a child with Turner; and the termination of fetuses diagnosed with Turner. Many of the challenges associated with TS are directly or indirectly related to social attitudes and practices, from harsh teasing...
Source: Fertility and Sterility - September 27, 2012 Category: Reproduction Medicine Authors: David Wasserman, Adrienne Asch Tags: Views and reviews Source Type: research
Fertility, pregnancy, and medical management of Turner syndrome in the reproductive years
Turner syndrome results in infertility in most cases. Fertility preservation through the cryopreservation of oocytes or ovarian tissue may be an option for some girls with Turner syndrome. Oocyte donation results in high pregnancy rates (PR). Those women who plan to pursue pregnancy need comprehensive screening and counseling before and after conception. Pregnancies conceived with either autologous or donated oocytes are at high risk of maternal death from aortic dissection/rupture and are at high risk of serious hypertensive disorders. Reproductive age women with Turner syndrome require ongoing screening for associated me...
Source: Fertility and Sterility - September 27, 2012 Category: Reproduction Medicine Authors: Megan Freebury Karnis Tags: Views and reviews Source Type: research
Genetic considerations in the patient with Turner syndrome—45,X with or without mosaicism
Turner syndrome (TS) is a complex developmental disorder in individuals with short stature who possess a 45,X cell line, with or without mosaicism. Because the single X chromosome is maternally derived in 80% of patients, the genesis of the 45,X karyotype is due to instability of the Y chromosome leading to its loss during meiosis. Phenotypic features vary depending on the mode of ascertainment, with postnatal presentation usually generating a more severe phenotype than a prenatal one. Although patients with pure 45,X present with delayed puberty more often than those with mosaicism for 46,XX or 47,XXX cell lines, the chro...
Source: Fertility and Sterility - September 27, 2012 Category: Reproduction Medicine Authors: Quincy Zhong, Lawrence C. Layman Tags: Views and reviews Source Type: research
Alterations of the Cerebral White Matter in a Middle-Aged Patient with Turner Syndrome: An MRI Study
Case Rep Neurol 2012;4:144–148 (DOI:10.1159/000342474) (Source: Karger Publishers)
Source: Karger Publishers - September 25, 2012 Category: Cancer & Oncology Source Type: research
Ontogenetic changes of craniofacial complex in Turner syndrome patients treated with growth hormone
Conclusions In TS patients treated with GH, growth capacities of cranial base and maxilla are adequate which can be attributed to GH treatment. Shape of mandible is altered due to decreased growth of corpus and overdeveloped ramus. Both maxillary and mandibular retrognathism are becoming more expressed during development. Clinical relevance Favorable influence of GH on craniofacial complex growth rate and altered growth pattern revealed in this study should be considered while planning both orthodontic treatment and retention. Content Type Journal ArticleCategory Original ArticleP...
Source: Clinical Oral Investigations - September 22, 2012 Category: Dentistry Tags: Clinical Oral Investigations Source Type: research