Database : MEDLINE
Search on : klinefelter and syndrome [Words]
References found : 3829 [refine]
Displaying: 1 .. 10   in format [Detailed]

page 1 of 383 go to page                         

  1 / 3829 MEDLINE  
              next record last record
select
to print
Photocopy
Full text

[PMID]: 28456808
[Au] Autor:Batista RL; Rodrigues AS; Nishi MY; Feitosa ACR; Gomes NLRA; Junior JAF; Domenice S; Costa EMF; de Mendonça BB
[Ad] Address:Unidade de Endocrinologia do Desenvolvimento, Disciplina de Endocrinologia e Metabologia do Hospital das Clínicas, Laboratório de Hormônios e Genética Molecular (LIM/42), Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.
[Ti] Title:Heterozygous Nonsense Mutation in the Androgen Receptor Gene Associated with Partial Androgen Insensitivity Syndrome in an Individual with 47,XXY Karyotype.
[So] Source:Sex Dev;11(2):78-81, 2017.
[Is] ISSN:1661-5433
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract:There are only 2 patients with 47,XXY karyotype and androgen receptor (AR) gene mutation reported in the literature, and both are diagnosed as complete androgen insensitivity syndrome (CAIS). We report a 22-year-old female with 47,XXY karyotype and atypical external genitalia. Sequencing of AR revealed the heterozygous p.Asn849Lys*32 mutation, and extensive X chromosome microsatellite analysis showed homozygosity for Xp and heterozygosity for Xq, suggesting partial X maternal isodisomy. Partial androgen insensitivity syndrome (PAIS) developed in this case, probably because of the presence of the heterozygous AR mutation and random X- inactivation of the healthy allele. This is the first report of a female patient with 47,XXY karyotype and PAIS phenotype.
[Mh] MeSH terms primary: Androgen-Insensitivity Syndrome/genetics
Codon, Nonsense/genetics
Genetic Predisposition to Disease
Karyotype
Mutation/genetics
Receptors, Androgen/genetics
[Mh] MeSH terms secundary: Base Sequence
Exons/genetics
Female
Heterozygote
Homozygote
Humans
Male
Microsatellite Repeats/genetics
Young Adult
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (AR protein, human); 0 (Codon, Nonsense); 0 (Receptors, Androgen)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:170501
[St] Status:MEDLINE
[do] DOI:10.1159/000468957

  2 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29452406
[Au] Autor:Di Nisio A; De Toni L; Rocca MS; Ghezzi M; Selice R; Taglialavoro G; Ferlin A; Foresta C
[Ad] Address:Department of Medicine, Operative Unit of Andrology and Medicine of Human Reproduction, University of Padova, Padova, Italy.
[Ti] Title:Negative Association Between Sclerostin and INSL3 in Isolated Human Osteocytes and in Klinefelter Syndrome: New Hints for Testis-Bone Crosstalk.
[So] Source:J Clin Endocrinol Metab;, 2018 Feb 14.
[Is] ISSN:1945-7197
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. In vitro effect of INSL3 on sclerostin production was evaluated in human cultured osteocytes. Patients: 103 KS patients and 60 age- and gender-matched controls were recruited. Main outcome measures: Serum sclerostin and INSL3 levels were assessed by enzyme-linked immunosorbent assay. Osteocytes were isolated by fluorescence-assisted cell sorting. Sclerostin expression was evaluated by western blot, immunofluorescence and RT-PCR. Measurement of bone mineral density (BMD) was done by dualenergy X-ray absorptiometry (DEXA) at lumbar spine (L1-L4) and femoral neck (FN). Results: Sclerostin levels were significantly increased in KS subjects, and negatively correlated with INSL3 levels in both cohorts and with BMD in KS group. Stimulation of cultured osteocytes with INSL3 at 10-7 M significantly decreased both SOST mRNA and protein expression. Conclusions: We report for the first time a negative association between the testicular hormone INSL3 and the osteocytic negative regulator of bone formation, sclerostin. We further explored this association in vitro, and showed that INSL3 was able to reduce sclerostin expression. These results add further knowledge on the emerging role of sclerostin as a therapeutic target for osteoporosis treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1210/jc.2017-02762

  3 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29452353
[Au] Autor:Heckmann L; Langenstroth-Röwer D; Pock T; Wistuba J; Stukenborg JB; Zitzmann M; Kliesch S; Schlatt S; Neuhaus N
[Ad] Address:Centre of Reproductive Medicine and Andrology, Institute of Reproductive and Regenerative Biology, Albert-Schweitzer-Campus 1, Building D11, 48149 Münster, Germany.
[Ti] Title:A diagnostic germ cell score for immature testicular tissue at risk of germ cell loss.
[So] Source:Hum Reprod;, 2018 Feb 14.
[Is] ISSN:1460-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:STUDY QUESTION: Can a systematic scoring procedure provide crucial information on the status of highly heterogeneous immature human testicular tissues in the context of cryopreservation for fertility preservation? SUMMARY ANSWER: We developed a systematic histological score as a novel diagnostic tool which differentiates the patient cohort according to the status of germ cell differentiation and number of spermatogonia (normal, diminished and absent), and which could be relevant in the fertility clinic. WHAT IS KNOWN ALREADY: Cryopreservation of testicular tissue of immature boys is currently considered the option for future fertility restoration. However, experimental techniques for the derivation of sperm as well as valid diagnostic scoring of these immature testis tissues are not yet reported. STUDY DESIGN, SIZE, DURATION: Testicular tissues of 39 patients (aged 2-20 years) who attended our clinic for cryopreservation between 2010 and 2015 were analyzed to determine the variability of testicular tissue composition, germ cell numbers and differentiation status. PARTICIPANTS/MATERIALS, SETTING, METHODS: Human testicular tissue samples were divided into three groups. Group NT included patients suffering from diseases which do not directly affect the testes (n = 6; aged 6-14 years), group AT included patients suffering from diseases that directly affect the testes (n = 14; 2-17 years), and group KS (Klinefelter patients, n = 19; 12-20 years). Based on immunohistochemical stainings for MAGEA4, the differentiation status as well as the numbers of gonocytes, spermatogonia and spermatocytes were determined. MAIN RESULTS AND THE ROLE OF CHANCE: Testicular tissue samples from the NT group contained a mean of 100.3 spermatogonia/mm3 (×103). Highly heterogeneous and significantly lower mean numbers of spermatogonia were scored in testes from boys after cytotoxic exposures or with pre-existing disease (AT group: 35.7 spermatogonia/mm3 (×103); KS group: 1.8 spermatogonia/mm3 (×103)). In addition, the germ cell differentiation status was determined and revealed tissues with either spermatogonia and gonocytes, only spermatogonia, spermatogonia and spermatocytes, or all three germ cell types were present. Based on spermatogonial numbers and differentiation status, we developed a germ cell score which we applied to each individual patient sample. LIMITATIONS REASONS FOR CAUTION: Normal human testicular tissue samples are difficult to obtain for ethical reasons and the sample numbers were small. However, six such samples provide a valid baseline for the normal situation. WIDER IMPLICATIONS OF THE FINDINGS: Fertility preservation of immature male tissues is an emerging field and is currently offered in many specialized centers worldwide. Our diagnostic germ cell score delivers an easily applicable tool, facilitating patient counseling and thus ensuring comparability between the centers with regard to future studies. STUDY FUNDING/COMPETING INTEREST(S): This study was supported by the Funding Initiative: Translational Research, Ministry of Innovation, Science and Research, Federal State of North Rhine Westphalia (z1403ts006). The authors declare that they do not have competing financial interests.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[St] Status:Publisher
[do] DOI:10.1093/humrep/dey025

  4 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29512178
[Au] Autor:Franik S; Smeets D; van de Zande G; Gomes I; D'Hauwers K; Braat DDM; Fleischer K; Ramos L
[Ad] Address:Department of Obstetrics and Gynaecology, Radboudumc Nijmegen, Nijmegen, The Netherlands.
[Ti] Title:Klinefelter syndrome and fertility-Impact of X-chromosomal inheritance on spermatogenesis.
[So] Source:Andrologia;, 2018 Mar 07.
[Is] ISSN:1439-0272
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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. Men with KS who have had a testicular biopsy for diagnostic fertility workup TESE were eligible for inclusion. Buccal swabs from nine KS patients and parents (trios) were taken to compare X-chromosomal inheritance to determine the parental origin of both X-chromosomes in the males with KS. Spermatozoa were found in TESE biopsies 8 of 35 (23%) patients after performing a unilateral or bilateral TESE. Different levels of spermatogenesis (from the only presence of spermatogonia, up to maturation arrest or hypospermatogenesis) appeared to be present in 19 of 35 (54%) men, meaning that the presence of spermatogenesis not always yields mature spermatozoa. From the nine KS-trios that were genetically analysed for X-chromosomal inheritance origin, no evidence of a correlation between the maternal or paternal origin of the additional X-chromosome and the presence of spermatogenesis was found. In conclusion, the maternal or paternal origin of the additional X-chromosome in men with KS does not predict the presence or absence of spermatogenesis.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1111/and.13004

  5 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29510647
[Au] Autor:Svirsky R; Brabbing-Goldstein D; Rozovski U; Kapusta L; Reches A; Yaron Y
[Ad] Address:a Prenatal Genetic Diagnosis Unit & Genetic Institute , Tel Aviv Sourasky Medical Center , Tel Aviv , Israel.
[Ti] Title:The genetic and clinical outcome of isolated fetal muscular ventricular septal defect (VSD).
[So] Source:J Matern Fetal Neonatal Med;:1-11, 2018 Mar 06.
[Is] ISSN:1476-4954
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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). Of the 40 women in the study, 32 gave birth and the clinical outcome of the children was retrieved from the patients' medical records. RESULTS: Of the 30 patients who underwent amniocentesis, one was detected with mosaic Klinefelter syndrome and one was detected with a pathogenic copy number variant, unrelated to the ventricular septal defect (VSD). Clinical follow-up was performed on 26 of the children after birth. In 13 (50%) of the followed-up children, first postnatal echocardiography did not detect a VSD. Spontaneous closure occurred in another eight (30.8%) children during the postnatal follow-up period. In only five children (19.2%) VSD was still detected by echocardiography after the first year of life. DISCUSSION: Isolated muscular VSD diagnosed prenatally does not appear to be a significant risk factor for chromosomal abnormalities and has a favorable clinical outcome.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180307
[Lr] Last revision date:180307
[St] Status:Publisher
[do] DOI:10.1080/14767058.2018.1449829

  6 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29384142
[Au] Autor:Meyer EJ; Wittert G
[Ad] Address:Endocrine, Diabetes and Metabolic Unit, Royal Adelaide Hospital, Port Road, SA 5000, Australia.
[Ti] Title:Endogenous testosterone and mortality risk.
[So] Source:Asian J Androl;20(2):115-119, 2018 Mar-Apr.
[Is] ISSN:1745-7262
[Cp] Country of publication:China
[La] Language:eng
[Ab] Abstract:In men, obesity and metabolic complications are associated with lower serum testosterone (T) and dihydrotestosterone (DHT) and an increased risk of, and mortality from, multiple chronic diseases in addition to cardiovascular disease (CVD). The causal interrelationships between these factors remain a matter of debate. In men with untreated congenital and lifelong forms of hypogonadotropic hypogonadism, there appears to be no increased risk. Men with Klinefelter's syndrome have an increased risk of various types of cancers, as well as CVD, which persist despite T therapy. In the absence of pathology of the hypothalamic-pituitary-gonadal axis, the effect of modest reductions in serum T in aging men is unclear. The prevalence of low serum T concentrations is high in men with cancer, renal disease, and respiratory disease and is likely to be an indicator of severity of systemic disease, not hypogonadism. Some population-based studies have found low serum T to be associated with a higher risk of deaths attributed to cancer, renal disease, and respiratory disease, while others have not. Although a meta-analysis of longitudinal studies has shown an association between low serum T and all-cause mortality, marked heterogeneity between studies limited a firm conclusion. Therefore, while a decrease in T particularly occurring later in life may be associated with an increase in all-cause and specific types of mortality in men, the differential effects, if any, of T and other sex steroids as compared to health and lifestyle factors are unknown at the current time.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[St] Status:In-Data-Review
[do] DOI:10.4103/aja.aja_70_17

  7 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29382506
[Au] Autor:Kanakis GA; Nieschlag E
[Ad] Address:Department of Endocrinology, Athens Naval & VA Hospital, Athens, Greece. Electronic address: geokan@endo.gr.
[Ti] Title:Klinefelter syndrome: more than hypogonadism.
[So] Source:Metabolism;, 2018 Jan 31.
[Is] ISSN:1532-8600
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and more than 70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing. KS patients present a series of comorbidities that increase morbidity and mortality by 40%. Such disturbances are the impaired metabolic profile (obesity, dyslipidemia, insulin resistance) and a tendency to thrombosis, which all favor cardiovascular disease. They also present susceptibility for specific neoplasias (breast cancer, extragonadal germ cell tumors), autoimmune diseases as well as osteoporosis and bone fractures. Moreover, KS has been associated with verbal processing and attention deficits as well as social skill impairments, leading KS individuals to academic and professional achievements inferior to those of their peers of comparable socio-economic status. Nevertheless, the majority fall within the average range regarding their intellectual abilities and adaptive functioning. Testosterone replacement therapy (TRT) is the mainstay of treatment in hypogonadal KS patients; however, randomized trials are needed to determine optimal therapeutic regimens and follow-up schedules.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher

  8 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29497897
[Au] Autor:Fabbri M; Zibetti M; Martone T; Lopiano L
[Ad] Address:Instituto de Medicina Molecular, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
[Ti] Title:Expanding the spectrum of movement disorders in Klinefelter syndrome.
[So] Source:Neurol Sci;, 2018 Mar 01.
[Is] ISSN:1590-3478
[Cp] Country of publication:Italy
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1803
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1007/s10072-018-3296-3

  9 / 3829 MEDLINE  
              first record previous record next record last record
select
to print
Photocopy
Full text

[PMID]: 29493127
[Au] Autor:Javed A; Khan Z; Pittock ST; Jensen JR
[Ad] Address:Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota, USA.
[Ti] Title:Options for Fertility Preservation in Children.
[So] Source:Pediatr Endocrinol Rev;15(3):223-233, 2018 Mar.
[Is] ISSN:1565-4753
[Cp] Country of publication:Israel
[La] Language:eng
[Ab] Abstract: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. However, parental attitudes toward discussion of fertility preservation have been found to be open to such conversations for both prepubertal and postpubertal children who have a cancer diagnosis. Multiple national and international organizations recommend discussion with all persons having gonadotoxic therapy, including children, regarding the effect of planned treatment on future fertility and their options for fertility preservation. Renal or rheumatologic disease treated with high-dose cyclophosphamide and chromosomal anomalies such as Turner or Klinefelter syndrome may be amenable to fertility preservation. This essay reviews fertility preservation options available to children, as well as the expanding list of indications for fertility preservation.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[St] Status:In-Data-Review
[do] DOI:10.17458/per.vol15.2018.jkpj.fertilitypreservation

  10 / 3829 MEDLINE  
              first record previous record
select
to print
Photocopy
Full text

[PMID]: 29472805
[Au] Autor:San-José P; Aguadero V; Perea G; Estrada M; Berlanga E
[Ad] Address:Clinical Laboratory, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Spain.
[Ti] Title:Gamma heavy-chain disease accompanied with follicular lymphoma: a case report.
[So] Source:Biochem Med (Zagreb);28(1):010802, 2018 Feb 15.
[Is] ISSN:1330-0962
[Cp] Country of publication:Croatia
[La] Language:eng
[Ab] Abstract: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). Haematological malignancy was the first suspicion but bone marrow examination was negative. In addition, the presence of an autoimmune bicytopenia and a Klinefelter syndrome complicated the clinical context of the patient. A thoracoabdominal computed tomography reported many small adenopathies whose pathological and immunohystochemical study revealed a follicular lymphoma. Shortly after, serum inmunofixation secondary to an abnormal electrophoretic pattern revealed a gamma paraprotein without light chains. Eventually, γ-HCD in association with follicular lymphoma was the final diagnosis. This is the first case reporting this association.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review
[do] DOI:10.11613/BM.2018.010802


page 1 of 383 go to page                         
   


Refine the search
  Database : MEDLINE Advanced form   

    Search in field  
1  
2
3
 
           



Search engine: iAH v2.6 powered by WWWISIS

BIREME/PAHO/WHO - Latin American and Caribbean Center on Health Sciences Information