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klinefelter's syndrome

Nera Zivlak-Radulovic, Visnja Banjac, Mirjana Miskovic
No abstract text is available yet for this article.
March 2018: Psychiatria Danubina
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
Craig Niederberger
No abstract text is available yet for this article.
May 2017: Journal of Urology
S Franik, D Smeets, G van de Zande, I Gomes, K D'Hauwers, D D M Braat, K Fleischer, L Ramos
With the use of testicular sperm extraction (TESE), spermatozoa can be retrieved in about 30%-50% of men with Klinefelter syndrome (KS). The reason for the absence or presence of spermatozoa in half of the men with KS remains unknown. Therefore, the search for an objective marker for a positive prediction in finding spermatozoa is of significant clinical value to avoid unnecessary testicular biopsies in males with (mostly) low testicular volume and impaired testosterone. The objective of this study was to determine whether paternal or maternal inheritance of the additional X-chromosome can predict the absence or presence of spermatogenesis in men with KS...
March 7, 2018: Andrologia
Ran Svirsky, Dana Brabbing-Goldstein, Uri Rozovski, Livia Kapusta, Adi Reches, Yuval Yaron
INTRODUCTION: Our objective was an evaluation of the incidence of chromosomal aberration (both microscopic and submicroscopic) and the clinical outcome of fetuses with isolated muscular ventricular septal defect. MATERIAL AND METHODS: The study included 40 pregnant women whose fetuses were diagnosed with isolated muscular ventricular septal defect (mVSD). Of these, 30 patients underwent amniocentesis and 10 declined. All samples were tested by chromosomal microarray analysis (CMA)...
March 6, 2018: Journal of Maternal-fetal & Neonatal Medicine
Asma Javed, Zaraq Khan, Siobhan T Pittock, Jani R Jensen
Fertility preservation therapies can conserve future reproductive potential for persons facing serious medical diagnoses. With cure rates for childhood cancer reaching almost 80%, quality-of-life concerns for long-term survivors, including future parenting, are becoming more pertinent. Late effects of childhood cancer can be divided into physical, social, psychological, and spiritual domains. Potential loss of fertility threatens the well-being of these children in all these domains. Providers often hesitate to discuss fertility preservation with the patients...
March 2018: Pediatric Endocrinology Reviews: PER
Paula San-José, Vicente Aguadero, Granada Perea, Meritxell Estrada, Eugenio Berlanga
Heavy chain diseases (HCD) are B-cell lymphoprolipherative disorders characterized by the production of monoclonal heavy chains without associated light chains. Some cases of gamma-HCD (γ-HCD) are concurrent with other lymphoid neoplasm. The monoclonal component is not always detectable by serum electrophoresis, and often an immunofixation procedure is necessary to detect this component. Prognosis is variable, and no established guidelines for follow-up are available. We describe a case of a challenging diagnosis of γ-HCD due to the absence of clinical signs frequently reported in the disease (anaemia and palatal oedema among others)...
February 15, 2018: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
Cem Haymana, Aydogan Aydogdu, Ibrahim Demirci, Mustafa Dinc, Orhan Demir, Deniz Torun, Fatih Yesildal, Coskun Meric, Yalcın Basaran, Alper Sonmez, Omer Azal
Patients with Klinefelter Syndrome (KS) have increased cardiometabolic risk however the pathogenesis is not clear. We investigated the presence of endothelial dysfunction, insulin resistance and inflammation in an unconfounded population of KS. A total of 32 patients with KS (mean age 21.59 ± 1.66 years) and 33 healthy control subjects (mean age: 22.15 ± 1.03 years) were enrolled. The demographic parameters, Asymmetric dimethylarginine (ADMA), homeostatic model assessment of insulin resistance (HOMA-IR) index and high-sensitivity C-reactive protein (hs-CRP) levels were measured...
February 19, 2018: Endocrine, Metabolic & Immune Disorders Drug Targets
Shin Y Kim, Bom Y Lee, Ah R Oh, So Y Park, Hyo S Lee, Ju T Seo
To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower...
February 22, 2018: Cytogenetic and Genome Research
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
C Ozer, P Caglar Aytac, M R Goren, S Toksoz, U Gul, T Turunc
Klinefelter syndrome is the most frequent chromosomal abnormality in patients with nonobstructive azoospermia. The development of advanced assisted reproductive techniques, such as testicular sperm extraction and intracytoplasmic sperm injection, has provided the possibility of biological fathering in nonobstructive azoospermic patients with Klinefelter syndrome. We aimed to evaluate our sperm retrieval rate by microdissection testicular sperm extraction and to analyse the intracytoplasmic sperm injection outcomes in these patients...
February 20, 2018: Andrologia
A Ferlin, R Selice, S Angelini, M Di Grazia, N Caretta, F Cavalieri, A Di Mambro, C Foresta
Klinefelter syndrome is a frequent cause of hypogonadism, but despite hundreds of publications on different aspects of Klinefelter syndrome, only a few studies dealt with sexual dysfunction. In particular, testosterone is critical for various aspects of sexual response, but its role on sexuality in Klinefelter syndrome patients is debatable and no studies have evaluated the efficacy of testosterone treatment on sexual dysfunction in these subjects. Furthermore, the impact of psychological and relational aspects on sexual function of Klinefelter syndrome subjects is poorly defined...
February 17, 2018: Andrology
Andrea Di Nisio, Luca De Toni, Maria Santa Rocca, Marco Ghezzi, Riccardo Selice, Giuseppe Taglialavoro, Alberto Ferlin, Carlo Foresta
Context/Objective: The regulation of bone mass by the testis is a well-recognized mechanism, but the role of Leydig-specific marker insuline-like 3 peptide (INSL3) on the most abundant bone cell population, osteocytes, is unknown. In this study we aimed to investigate the relationship between INSL3 and Sclerostin, an osteocyte-specific protein that negatively regulates bone formation. Design/Setting: Serum sclerostin and INSL3 levels were evaluated in Klinefelter Syndrome (KS) and healthy controls...
February 14, 2018: Journal of Clinical Endocrinology and Metabolism
Andrea Garolla, Riccardo Selice, Massimo Menegazzo, Umberto Valente, Filiberto Zattoni, Massimo Iafrate, Tommaso Prayer-Galetti, Marina Gardiman Paola, Alberto Ferlin, Andrea Di Nisio, Carlo Foresta
STUDY QUESTION: To investigate whether sperm recovery is related to clinical features, hormone parameters and testosterone replacement therapy (TRT) in patients with Klinefelter syndrome (KS). SUMMARY ANSWER: This study provides three interesting insights: i) the probability to retrieve sperm is not related to testicular volume; ii) TRT does not affect sperm retrieval rate (SRR); iii) reduced levels of LH and FSH represent a negative predictor of sperm retrieval in patients with TRT...
February 15, 2018: Clinical Endocrinology
Aida Catic, Lejla Gurbeta, Amina Kurtovic-Kozaric, Senad Mehmedbasic, Almir Badnjevic
BACKGROUND: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Cytogenetic and molecular analyses are the most frequent tests used in prenatal diagnostic for the early detection of Turner, Klinefelter, Patau, Edwards and Down syndrome...
February 13, 2018: BMC Medical Genomics
Claus H Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore, Anne Skakkebæk
Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed. In fact, as few as 25% of KS patients are accurately diagnosed, and most of these diagnoses are not made until adulthood. Classic characteristics of KS include small testes, infertility, hypergonadothropic hypogonadism, and cognitive impairment. However, the pathophysiology behind KS is not well understood, although genetic effects are also thought to play a role...
February 9, 2018: Endocrine Reviews
Rabih M Geha, Reza Manesh
No abstract text is available yet for this article.
February 6, 2018: American Journal of Medicine
David Andrew Griffiths
The 2006 'Consensus statement on management of intersex disorders' recommended moving to a new classification of intersex variations, framed in terms of 'disorders of sex development' or DSD. Part of the rationale for this change was to move away from associations with gender, and to increase clarity by grounding the classification system in genetics. While the medical community has largely accepted the move, some individuals from intersex activist communities have condemned it. In addition, people both inside and outside the medical community have disagreed about what should be covered by the classification system, in particular whether sex chromosome variations and the related diagnoses of Turner and Klinefelter's syndromes should be included...
February 2018: Social Studies of Science
Carole Samango-Sprouse, Emily Stapleton, Selena Chea, Patrick Lawson, Teresa Sadeghin, Chris Cappello, Leo de Sonneville, Sophie van Rijn
47,XXY (KS) occurs in 1:650 male births, though less than 25% are ever identified. We assessed stability of neurocognitive features across diverse populations and quantified factors mediating outcome. Forty-four boys from the Netherlands (NL) and 54 boys from the United States (US) participated. The Wechsler Intelligence Scales assessed intellectual functioning; the ANT program evaluated cognitive function; and the CBCL assessed behavioral functioning. ANOVA was used for group comparisons. Hierarchical regressions assessed variance explained by each independent variable: parental education, timing of diagnosis, testosterone, age, and nationality...
February 9, 2018: American Journal of Medical Genetics. Part A
Alper Eken, Feray Gulec
The aim of this study was to evaluate the predictive value of preoperative hormonal levels and pathology, as well as the outcome of microsurgical testicular sperm extraction in patients with non-obstructive azoospermia (NOA), presenting to our clinic for treatment of infertility. The records of 145 men with NOA who underwent microdissection testicular sperm extraction (micro-TESE) between March 2013 and November 2016 were studied. The patient's age, testicular volume, hormonal profile for follicle-stimulating hormone (FSH), luteinizing hormone (LH), and testosterone (TT), and testicular pathology were recorded...
February 2018: Kaohsiung Journal of Medical Sciences
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