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https://www.readbyqxmd.com/read/29149458/hormone-therapy-and-patients-satisfaction-with-treatment-in-a-large-cohort-of-diverse-disorders-of-sex-development-dsd
#1
Anna Nordenström, Robert Röhle, Ute Thyen, Claire Bouvattier, Jolanta Slowikowska-Hilczer, Nicole Reisch, Hedi Claahsen van der Grinten, Aude Brac de la Perriere, Peggy T Cohen-Kettenis, Birgit Köhler
OBJECTIVES: To describe and investigate the hormone treatments in individuals with different forms of disorders of sex development (DSD), and the patients own views on their treatment. DESIGN: Multicentre cross-sectional clinical evaluation, dsd-LIFE in six European countries from 02/2014 to 09/2015. PARTICIPANTS: 1040 adolescents and adults (≥16 years) with different DSD conditions. MAIN OUTCOMES MEASURES: Hormone replacement, information received and patient satisfaction...
November 17, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29142768/a-rare-double-aneuploidy-case-down-klinefelter
#2
Sevcan Tug Bozdogan, Atil Bisgin
Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#3
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29040537/chromosomal-abnormalities-in-1663-infertile-men-with-azoospermia-the-clinical-consequences
#4
R B Donker, V Vloeberghs, H Groen, H Tournaye, C M A van Ravenswaaij-Arts, J A Land
STUDY QUESTION: What is the prevalence of chromosomal abnormalities in azoospermic men and what are the clinical consequences in terms of increased risk for absent spermatogenesis, miscarriages and offspring with congenital malformations? SUMMARY ANSWER: The prevalence of chromosomal abnormalities in azoospermia was 14.4%, and the number of azoospermic men needed to be screened (NNS) to identify one man with a chromosomal abnormality with increased risk for absence of spermatogenesis was 72, to prevent one miscarriage 370-739 and to prevent one child with congenital malformations 4751-23 757...
October 13, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29035110/early-communicative-skills-of-children-with-klinefelter-syndrome
#5
Laura Zampini, Tiziana Burla, Gaia Silibello, Francesca Dall'Ara, Claudia Rigamonti, Faustina Lalatta, Paola Vizziello
Many studies reported the presence of language impairments in children and adolescents with Klinefelter syndrome (KS). However, the first stage of their language development has been scarcely studied. The present study aimed to describe the spontaneous communicative production of 18-month-old children with KS, in comparison with that of typically developing (TD) male peers, aiming to verify the existence of different early communicative skills in both vocal and gestural modality and to identify the presence of possible associations with their later vocabulary size...
October 16, 2017: Clinical Linguistics & Phonetics
https://www.readbyqxmd.com/read/29030589/aberrant-ocular-architecture-and-function-in-patients-with-klinefelter-syndrome
#6
Cristin Brand, Michael Zitzmann, Nicole Eter, Sabine Kliesch, Joachim Wistuba, Maged Alnawaiseh, Peter Heiduschka
Klinefelter Syndrome (KS), the most common chromosomal disorder in men (47,XXY), is associated with numerous comorbidities. Based on a number of isolated case reports, we performed the first systematic and comprehensive evaluation of eye health in KS patients with a focus on ocular structure and vascularization. Twenty-one KS patients and 26 male and 38 female controls underwent a variety of non-invasive examinations investigating ocular morphology (examination of retinal thickness, optic nerve head, and cornea) and function (visual field testing and quantification of ocular vessel density by optical coherence tomography angiography)...
October 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29022558/klinefelter-syndrome-in-childhood-variability-in-clinical-and-molecular-findings
#7
Neşe Akcan, Şükran Poyrazoğlu, Firdevs Baş, Rüveyde Bundak, Feyza Darendeliler
OBJECTIVE: Klinefelter syndrome (KS) is the most common (1/500-1/1000) chromosomal disorder in males, but only 10% of cases are identified in childhood. This study aimed to review the data of the children with KS to assess the age and reason for diagnosis, clinical and laboratory findings, as well as the presence of comorbidities. METHODS: Twenty-three KS patients were analyzed retrospectively. Age at admission, presenting symptoms, comorbid problems, height, weight, pubertal status, biochemical findings, hormone profiles, bone mineral density, and karyotype were evaluated...
October 12, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29021279/long-term-fragility-of-y-chromosomes-is-dominated-by-short-term-resolution-of-sexual-antagonism
#8
Heath Blackmon, Yaniv Brandvain
The evolution of heteromorphic sex chromosomes has fascinated biologists, inspiring theoretical models, experimental studies, and studies of genome structure. This work has produced a clear model, in which heteromorphic sex chromosomes result from repeated fixations of inversions (or other recombination suppression mechanisms) that tether sexually antagonistic alleles to sex-determining regions, followed by the degeneration of these regions induced by the lack of sex chromosome recombination in the heterogametic sex...
October 11, 2017: Genetics
https://www.readbyqxmd.com/read/28990672/microdissection-testicular-sperm-extraction-in-finland-results-of-the-first-100-patients
#9
Rauni Klami, Harri Mankonen, Antti Perheentupa
INTRODUCTION: Testicular microdissection sperm extraction (MD-TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non-obstructive azoospermia. MD-TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non-obstructive azoospermia have been operated on. MATERIAL AND METHODS: The average age was 33 years at the time of surgery. Forty-eight had a needle biopsy previously, 56% had testicular size less than 15ml...
October 9, 2017: Acta Obstetricia et Gynecologica Scandinavica
https://www.readbyqxmd.com/read/28973759/down-klinefelter-syndrome-48-xxy-21-in-a-neonate-associated-with-congenital-heart-disease
#10
M A Rodrigues, L F Morgade, L F A Dias, R V Moreira, P D Maia, A F H Sales, P D Ribeiro
Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B and significant left ventricular failure, moderate atrioventricular valve regurgitation, right-sided heart failure, and preserved systolic function...
September 27, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28960039/hypogonadism-makes-dyslipidemia-in-klinefelter-s-syndrome
#11
Hyo Serk Lee, Chan Woo Park, Joong Shik Lee, Ju Tae Seo
Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening...
November 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28937389/incontinentia-pigmenti-an-x-linked-dominant-disorder-in-a-2-year-old-boy-with-klinefelter-syndrome
#12
Abhilasha Williams, Laxmisha Chandrashekar, Vivi M Srivastava, Meera Thomas, Saban Horo, Renu George
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschko's lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present. While intelligence is generally normal, varied degrees of intellectual disability/developmental delay have been reported...
July 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/28902077/hematopoietic-stem-cell-transplantation-for-myelodysplastic-syndrome-in-a-child-with-klinefelter-syndrome
#13
Esra Serdaroğlu, Baris Kuskonmaz, Yasemin Alanay, Selin Aytac, Mualla Cetin, Duygu U Cetinkaya
No abstract text is available yet for this article.
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28895703/-double-aneuploidy-klinefelter-and-edwards-syndromes-48-xxy-18-case-report
#14
Mailén Costa, Silvia Ávila
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far...
October 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28883919/a-case-of-klinefelter-syndrome-with-hypersexual-desire
#15
Kingsley Okolie, Sumathy Perampalam, Anthony Barker, Christopher J Nolan
Klinefelter syndrome (KS) is a chromosomal disorder affecting males, with the typical karyotype of 47,XXY due to a supernumerary X chromosome, which causes progressive testicular failure resulting in androgen deficiency and infertility. Despite it being the most common sex chromosomal disorder, its diagnosis is easily missed. In addition to its classical clinical features of tall stature, gynaecomastia, small testes, and symptoms and signs of hypogonadism including infertility, KS is also often associated with neurocognitive, behavioural and psychiatric disorders...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28854582/incidence-prevalence-diagnostic-delay-morbidity-mortality-and-socioeconomic-status-in-males-with-46-xx-disorders-of-sex-development-a-nationwide-study
#16
A Berglund, T H Johannsen, K Stochholm, L Aksglaede, J Fedder, M H Viuff, K M Main, C H Gravholt
STUDY QUESTION: What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? SUMMARY ANSWER: 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. WHAT IS KNOWN ALREADY: 46,XX DSD males are rare and estimates of prevalence and incidence are limited...
August 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28821302/participation-of-adults-with-disorders-differences-of-sex-development-dsd-in-the-clinical-study-dsd-life-design-methodology-recruitment-data-quality-and-study-population
#17
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler
BACKGROUND: dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD). This study focuses on various rare genetic conditions characterized by impaired gonadal or adrenal functionality. METHODS/DESIGN: The study aims to assess quality of life (QoL) as a measure of psychosocial adaptation, psychosexual and mental health aspects as major outcomes. Health status and functioning, medical and surgical therapies, participants' views on health care, psychological and social support, sociodemographic factors and their interrelations will be investigated as factors associated with the outcomes...
August 18, 2017: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/28801929/validation-and-application-of-a-novel-integrated-genetic-screening-method-to-a-cohort-of-1-112-men-with-idiopathic-azoospermia-or-severe-oligozoospermia
#18
Manon S Oud, Liliana Ramos, Moira K O'Bryan, Robert I McLachlan, Özlem Okutman, Stephane Viville, Petra F de Vries, Dominique F C M Smeets, Dorien Lugtenberg, Jayne Y Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E L M Vissers, Alexander Hoischen, Aukje M Meijerink, Kathrin Fleischer, Joris A Veltman, Michiel J Noordam
Microdeletions of the Y chromosome (YCMs), Klinefelter syndrome (47,XXY), and CFTR mutations are known genetic causes of severe male infertility, but the majority of cases remain idiopathic. Here, we describe a novel method using single molecule Molecular Inversion Probes (smMIPs), to screen infertile men for mutations and copy number variations affecting known disease genes. We designed a set of 4,525 smMIPs targeting the coding regions of causal (n = 6) and candidate (n = 101) male infertility genes. After extensive validation, we screened 1,112 idiopathic infertile men with non-obstructive azoospermia or severe oligozoospermia...
November 2017: Human Mutation
https://www.readbyqxmd.com/read/28782868/klinefelter-s-syndrome-and-sexual-offending-a-literature-review
#19
Rebecca O'Donovan, Birgit Völlm
BACKGROUND: Klinefelter's syndrome is a sex chromosome abnormality affecting approximately 1 in 1000 men. There have been suggestions that it is associated with a higher than average prevalence of sexual offending but to what extent does research evidence support this assertion? AIMS: This study aimed to conduct a systematic review of published research to establish the prevalence of sexual offending in men with Klinefelter's syndrome. METHOD: The databases MEDLINE, PsycINFO and EMBASE were searched from inception until 31 December 2016 by using a range of terms for Klinefelter's syndrome and for sexual offending...
August 7, 2017: Criminal Behaviour and Mental Health: CBMH
https://www.readbyqxmd.com/read/28774622/method-to-assess-component-contribution-to-toxicity-of-complex-mixtures-assessment-of-puberty-acquisition-in-rats-exposed-to-disinfection-byproducts
#20
Shahid Parvez, Glenn E Rice, Linda K Teuschler, Jane Ellen Simmons, Thomas F Speth, Susan D Richardson, Richard J Miltner, E Sidney Hunter, Jonathan G Pressman, Lillian F Strader, Gary R Klinefelter, Jerome M Goldman, Michael G Narotsky
A method based on regression modeling was developed to discern the contribution of component chemicals to the toxicity of highly complex, environmentally realistic mixtures of disinfection byproducts (DBPs). Chemical disinfection of drinking water forms DBP mixtures. Because of concerns about possible reproductive and developmental toxicity, a whole mixture (WM) of DBPs produced by chlorination of a water concentrate was administered as drinking water to Sprague-Dawley (S-D) rats in a multigenerational study...
August 2017: Journal of Environmental Sciences (China)
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