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[PMID]:28456834
[Au] Autor:Krausz C; Casamonti E
[Ad] Endereço:Department of Experimental, Clinical and Biomedical Sciences Mario Serio, Sexual Medicine and Andrology Unit, University of Florence, Viale Pieraccini 6, 50139, Florence, Italy. c.krausz@dfc.unifi.it.
[Ti] Título:Spermatogenic failure and the Y chromosome.
[So] Source:Hum Genet;136(5):637-655, 2017 05.
[Is] ISSN:1432-1203
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:The Y chromosome harbors a number of genes essential for testis development and function. Its highly repetitive structure predisposes this chromosome to deletion/duplication events and is responsible for Y-linked copy-number variations (CNVs) with clinical relevance. The AZF deletions remove genes with predicted spermatogenic function en block and are the most frequent known molecular causes of impaired spermatogenesis (5-10% of azoospermic and 2-5% of severe oligozoospermic men). Testing for this deletion has both diagnostic and prognostic value for testicular sperm retrieval in azoospermic men. The most dynamic region on the Yq is the AZFc region, presenting numerous NAHR hotspots leading to partial losses or gains of the AZFc genes. The gr/gr deletion (a partial AZFc deletion) negatively affects spermatogenic efficiency and it is a validated, population-dependent risk factor for oligozoospermia. In certain populations, the Y background may play a role in the phenotypic expression of partial AZFc rearrangements and similarly it may affect the predisposition to specific deletions/duplication events. Also, the Yp contains a gene array, TSPY1, with potential effect on germ cell proliferation. Despite intensive investigations during the last 20 years on the role of this sex chromosome in spermatogenesis, a number of clinical and basic questions remain to be answered. This review is aimed at providing an overview of the role of Y chromosome-linked genes, CNVs, and Y background in spermatogenesis.
[Mh] Termos MeSH primário: Cromossomos Humanos Y/genética
Espermatogênese/genética
[Mh] Termos MeSH secundário: Deleção Cromossômica
Variações do Número de Cópias de DNA
Seres Humanos
Infertilidade Masculina/genética
Masculino
Oligospermia/genética
Deleção de Sequência
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1707
[Cu] Atualização por classe:180306
[Lr] Data última revisão:
180306
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170501
[St] Status:MEDLINE
[do] DOI:10.1007/s00439-017-1793-8


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[PMID]:28450650
[Au] Autor:Birowo P; Putra DE; Dewi M; Rasyid N; Taher A
[Ad] Endereço:Department of Urology, Faculty of medicine Universitas Indonesia - Cipto Mangunkusumo Hospital, Jakarta, Indonesia. ponco.birowo@gmail.com.
[Ti] Título:Y-Chromosomal Microdeletion in Idiopathic Azoospermic and Severe Oligozoospermic Indonesian Men.
[So] Source:Acta Med Indones;49(1):17-23, 2017 Jan.
[Is] ISSN:0125-9326
[Cp] País de publicação:Indonesia
[La] Idioma:eng
[Ab] Resumo:AIM: to detect Y-chromosomal microdeletion in Indonesian men with azoospermia or severe oligozoospermia using multiplex PCR. METHODS: we performed 2 multiplex PCR amplifications of the Azoospermia Factor (AZF) region in 71 men. Criteria for including a patient were fulfilled if they presented with azoospermia or severe oligozoospermia, with or without additional abnormalities of sperm motility or of head morphology, raised or normal levels of FSH, normal levels of LH and testosterone, and with no evidence of testicular tumors or other abnormalities. Five men participated as control persons. RESULTS: partial deletion of AZFa was found in 11 men (15.49%), complete deletion of AZFb in 1 man (1.4%), and complete deletion of AZFc in 1 man (1.4%). The unspecific type of deletion was also detected, including the DBY gene in 2 men (2.81%), and partial deletion of both AZFa and AZFb in 2 men (2.81%). No AZF deletion was observed in the control probands. Related to the type of deletion, the AZFa and AZFb deletion showed spermatogenesis arrest in most tubules, while deletion of the DBY gene is associated with the sertoli cell only (SCO) syndrome. CONCLUSION: the frequency of partial deletion of AZFa was found to be relatively high in our center. The type of deletion is associated with the testicular histology.
[Mh] Termos MeSH primário: Azoospermia/genética
Infertilidade Masculina/genética
Oligospermia/genética
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética
Testículo/patologia
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Deleção Cromossômica
Cromossomos Humanos Y/genética
Seres Humanos
Indonésia
Masculino
Reação em Cadeia da Polimerase Multiplex
Aberrações dos Cromossomos Sexuais
Espermatozoides/fisiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1803
[Cu] Atualização por classe:180302
[Lr] Data última revisão:
180302
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE


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[PMID]:29339528
[Au] Autor:Engels M; Gehrmann K; Falhammar H; Webb EA; Nordenström A; Sweep FC; Span PN; van Herwaarden AE; Rohayem J; Richter-Unruh A; Bouvattier C; Köhler B; Kortmann BB; Arlt W; Roeleveld N; Reisch N; Stikkelbroeck NMML; Claahsen-van der Grinten HL; dsd-LIFE group
[Ad] Endereço:Department of PediatricsAmalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands.
[Ti] Título:Gonadal function in adult male patients with congenital adrenal hyperplasia.
[So] Source:Eur J Endocrinol;178(3):285-294, 2018 Mar.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:CONTEXT: Current knowledge on gonadal function in congenital adrenal hyperplasia (CAH) is mostly limited to single-center/country studies enrolling small patient numbers. Overall data indicate that gonadal function can be compromised in men with CAH. OBJECTIVE: To determine gonadal function in men with CAH within the European 'dsd-LIFE' cohort. DESIGN: Cross-sectional clinical outcome study, including retrospective data from medical records. METHODS: Fourteen academic hospitals included 121 men with CAH aged 16-68 years. Main outcome measures were serum hormone concentrations, semen parameters and imaging data of the testes. RESULTS: At the time of assessment, 14/69 patients had a serum testosterone concentration below the reference range; 7 of those were hypogonadotropic, 6 normogonadotropic and 1 hypergonadotropic. In contrast, among the patients with normal serum testosterone (55/69), 4 were hypogonadotropic, 44 normogonadotropic and 7 hypergonadotropic. The association of decreased testosterone with reduced gonadotropin concentrations (odds ratio (OR) = 12.8 (2.9-57.3)) was weaker than the association between serum androstenedione/testosterone ratio ≥1 and reduced gonadotropin concentrations (OR = 39.3 (2.1-732.4)). Evaluation of sperm quality revealed decreased sperm concentrations (15/39), motility (13/37) and abnormal morphology (4/28). Testicular adrenal rest tumor (TART)s were present in 39/80 patients, with a higher prevalence in patients with the most severe genotype (14/18) and in patients with increased current 17-hydroxyprogesterone 20/35) or androstenedione (12/18) serum concentrations. Forty-three children were fathered by 26/113 patients. CONCLUSIONS: Men with CAH have a high risk of developing hypothalamic-pituitary-gonadal disturbances and spermatogenic abnormalities. Regular assessment of endocrine gonadal function and imaging for TART development are recommended, in addition to measures for fertility protection.
[Mh] Termos MeSH primário: Hiperplasia Suprarrenal Congênita/sangue
Androstenodiona/sangue
Gonadotropinas/sangue
Hipogonadismo/sangue
Testosterona/sangue
[Mh] Termos MeSH secundário: Adolescente
Hiperplasia Suprarrenal Congênita/complicações
Hiperplasia Suprarrenal Congênita/epidemiologia
Tumor de Resto Suprarrenal/sangue
Tumor de Resto Suprarrenal/epidemiologia
Adulto
Idoso
Estudos Transversais
Europa (Continente)/epidemiologia
Seres Humanos
Hidroxiprogesteronas/sangue
Hipogonadismo/complicações
Masculino
Meia-Idade
Razão de Chances
Oligospermia/complicações
Prevalência
Análise do Sêmen
Contagem de Espermatozoides
Motilidade Espermática
Neoplasias Testiculares/sangue
Neoplasias Testiculares/epidemiologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Gonadotropins); 0 (Hydroxyprogesterones); 3XMK78S47O (Testosterone); 409J2J96VR (Androstenedione)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180220
[Lr] Data última revisão:
180220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:180118
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0862


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[PMID]:29017965
[Au] Autor:Li L; Sha YW; Su ZY; Mei LB; Ji ZY; Zhang Q; Lin SB; Wang X; Qiu PP; Li P; Yin C
[Ad] Endereço:Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing 100026, China. Electronic address: linlithu@163.com.
[Ti] Título:A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.
[So] Source:Gene;639:106-110, 2018 Jan 10.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Severe oligozoospermia (SO) is a common disease resulting in male infertility; however, its pathophysiology remains unclear. Here, we report two brothers with SO. Whole-exome sequencing (WES) identified a hemizygous variant in HAUS7 (c.G386T:p.G129V), an X-linked gene. HAUS7 has been reported to play a role in the meiotic maturation and chromosome alignment of germ cells. The two patients inherited this variant from their mother, and this variant was considered to be a highly pathogenic mutation by in silico analysis. Moreover, in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) was carried out in both the proband's wife and the brother's wife, but they failed to become pregnant after the embryo transfers. Therefore, this novel mutation in HAUS7 gene may be associated with severe oligozoospermia.
[Mh] Termos MeSH primário: Proteínas de Ciclo Celular/genética
Proteínas Associadas aos Microtúbulos/genética
Mutação
Oligospermia/genética
[Mh] Termos MeSH secundário: Adulto
Feminino
Seres Humanos
Infertilidade Masculina/genética
Masculino
Linhagem
Gravidez
Resultado da Gravidez
Técnicas de Reprodução Assistida
Sequenciamento Completo do Exoma
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cell Cycle Proteins); 0 (HAUS7 protein, human); 0 (Microtubule-Associated Proteins)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:180130
[Lr] Data última revisão:
180130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171012
[St] Status:MEDLINE


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[PMID]:28845935
[Au] Autor:Bozhedomov VA; Lipatova NA; Bozhedomova GE; Rokhlikov IM; Shcherbakova EV; Komarina RA
[Ad] Endereço:Polyclinic 3 of the ADP of the RF, 2N.A. Semashko Railroad Hospital, 3I.M. Sechenov First MSMU, 4City Polyclinic 68, Moscow Health Department, Moscow, Russia.
[Ti] Título:[Using L- and acetyl-L-carnintines in combination with clomiphene citrate and antioxidant complex for treating idiopathic male infertility: a prospective randomized trial].
[So] Source:Urologiia;(3):22-32, 2017 Jul.
[Is] ISSN:1728-2985
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:The most common cause of male infertility is idiopathic oligo-, and or astheno-, and /or teratozoospermia. In such cases, anti-estrogens, antioxidants (vitamins and trace elements) or carnitines are used, but the evidence on their effectiveness is inconsistent; there are currently no published studies exploring their concurrent use. AIM: To investigate the efficacy and safety of the L- and acetyl-L-carnitine complex, vitamins A, E, C, selenium, zinc and other antioxidants ("SpermActin" + "More than vitamins") in combination with clomiphene citrate (CC) in managing male idiopathic infertility in the form of oligo, and/or astheno-, and/or teratozoospermia. MATERIALS AND METHODS: The study comprised 173 men from infertile couples aged 25-45 years who were divided into two groups - the study group (n=88) and control group (n=85). All the patients were examined according to the WHO recommendations. Patients of the study group received L-carnitine fumarate (1 g), acetyl-L-carnitine (0.5 g) twice daily, a complex of vitamins and microelements and CC 25 mg twice daily orally. Patients of the control group were administered the same dosages of CC and a complex of vitamins. Ejaculate was evaluated before and after 3-4 months of treatment. Six months after the start of treatment, information about the onset or absence of pregnancy over the last six months was collected via telephone or online survey. RESULTS: Co-administration of L- and acetyl-L-carnitines concurrently with CC and antioxidant complex (vitamins and minerals) in patients with idiopathic oligo- and/or asteno- and/or teratozoospermia provides some additional positive effect on the concentration of spermatozoa, more pronounced in patients with multiple impaired semen parameters - oligoasthenoteratozoospermia, but does not improve the morphology, progressive sperm motility and pregnancy rates compared to patients receiving basic treatment.
[Mh] Termos MeSH primário: Acetilcarnitina/uso terapêutico
Antioxidantes/uso terapêutico
Astenozoospermia/tratamento farmacológico
Clomifeno/uso terapêutico
Oligospermia/tratamento farmacológico
Teratozoospermia/tratamento farmacológico
[Mh] Termos MeSH secundário: Acetilcarnitina/administração & dosagem
Acetilcarnitina/farmacologia
Adulto
Antioxidantes/administração & dosagem
Antioxidantes/farmacologia
Clomifeno/administração & dosagem
Clomifeno/farmacologia
Quimioterapia Combinada
Seres Humanos
Masculino
Meia-Idade
Minerais/administração & dosagem
Minerais/farmacologia
Minerais/uso terapêutico
Selênio/administração & dosagem
Selênio/farmacologia
Selênio/uso terapêutico
Sêmen/efeitos dos fármacos
Motilidade Espermática/efeitos dos fármacos
Espermatozoides/efeitos dos fármacos
Vitaminas/administração & dosagem
Vitaminas/farmacologia
Vitaminas/uso terapêutico
Zinco/administração & dosagem
Zinco/farmacologia
Zinco/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Antioxidants); 0 (Minerals); 0 (Vitamins); 1HRS458QU2 (Clomiphene); 6DH1W9VH8Q (Acetylcarnitine); H6241UJ22B (Selenium); J41CSQ7QDS (Zinc)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170829
[St] Status:MEDLINE


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[PMID]:28635070
[Au] Autor:Jin X; Man C; Gong D; Fan Y
[Ad] Endereço:Institute of Molecular Biology and Translational Medicine, The Affiliated People's Hospital, Jiangsu University, Zhenjiang, Jiangsu, 212002, China.
[Ti] Título:Adjuvant Treatment with Qilin Pill for Men with Oligoasthenospermia: A Meta-Analysis of Randomized Controlled Trials.
[So] Source:Phytother Res;31(9):1291-1297, 2017 Sep.
[Is] ISSN:1099-1573
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Qilin pill has been used in the management of oligoasthenospermia. This meta-analysis aimed to evaluate the effects of Qilin pill as an adjunctive therapy on semen parameters in oligoasthenospermic men. A comprehensive literature search was conducted in PubMed, Embase, Cochrane Library, Wanfang, CNKI, and VIP databases until June 2016. Randomized controlled trials (RCTs) that evaluated Qilin pill as an adjunctive therapy in oligoasthenospermic were included. Dichotomous data and continuous data were calculated as the risk ratio (RR) and mean difference (MD) with their 95% confidence interval (CI), respectively. Eight RCTs involving 778 patients were identified. Adjunctive treatment with Qilin pill significantly improved the semen volume (MD 0.50 mL; 95% CI 0.42-0.59), sperm concentration (MD 5.01 × 10 /mL; 95% CI 3.28-6.75), sperm motility (MD 7.54%; 95% CI 5.64-9.45), grade A sperm (MD 9.75%; 95% CI 4.05-15.45), serum testosterone level (MD 1.66 nM; 95% CI 0.40-2.92), and pregnancy rate (RR 1.46; 95% CI 1.08-1.99) during follow-up. However, differences in the serum follicle-stimulating and luteinizing hormone levels were not significant. Adjunctive treatment with Qilin pill significantly improves the sperm quality in patients with oligoasthenospermia. However, further trials are necessary to investigate the efficacy of Qilin pill on oligoasthenospermia-induced male infertility. Copyright © 2017 John Wiley & Sons, Ltd.
[Mh] Termos MeSH primário: Oligospermia/tratamento farmacológico
Espermatozoides/efeitos dos fármacos
[Mh] Termos MeSH secundário: Feminino
Seres Humanos
Masculino
Gravidez
Taxa de Gravidez
Ensaios Clínicos Controlados Aleatórios como Assunto
Contagem de Espermatozoides
Motilidade Espermática/efeitos dos fármacos
[Pt] Tipo de publicação:JOURNAL ARTICLE; META-ANALYSIS; REVIEW
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170622
[St] Status:MEDLINE
[do] DOI:10.1002/ptr.5854


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[PMID]:28394525
[Au] Autor:Sosnin DY; Zubareva NA; Nenasheva OY; Krivtsov AV; Karimova NV; Pozdin NV
[Ad] Endereço:E.A. Vagner Perm State Medical Academy of Minzdrav of Russia, Department of Clinical Laboratory Diagnostics, Perm, Russia.
[Ti] Título:[Ejaculate and serum procalcitonin levels in healthy men and men with oligoasthenozoospermia].
[So] Source:Urologiia;(1):61-65, 2017 Apr.
[Is] ISSN:1728-2985
[Cp] País de publicação:Russia (Federation)
[La] Idioma:rus
[Ab] Resumo:INTRODUCTION: Seminal plasma composition reflects the activity of reproductive organs involved in the semen production. AIM: To study procalcitonin concentrations in serum and semen samples of healthy men and men with oligoasthenozoospermia. METHOD: s .The study included 88 men, who were scheduled for diagnostic evaluation to establish the cause of infertile marriages. The study group comprised 40 men with oligoasthenozoospermia, the comparison group included 48 men with normal sperm concentration. Laboratory testing of all participants revealed no abnormal findings in blood count, blood chemistry studies and urinalysis. RESULTS: Mean seminal plasma procalcitonin level in the study subjects (n=87) was 0,349+/-0,370 ng/ml being about 10 times higher than its serum level, which was 0.037+/-0.027 ng/ml (p<0.000001). In the study group, seminal plasma PCT concentration was significantly greater than in the control group (p=0.0095), while the serum procalcitonin levels in all participants were almost identical (p=0.605). There were no statistically significant correlations between the procalcitonin levels and spermatozoa concentration, total count and ejaculate volume. CONCLUSIONS: The findings suggest that elevated levels of procalcitonin in seminal plasma can be regarded as an unfavorable prognostic factor, indicating the reduced ejaculate fertility. Further studies seem warranted, specifically considering the role and source of procalcitonin production in sperm.
[Mh] Termos MeSH primário: Calcitonina/análise
Oligospermia/metabolismo
Sêmen/química
[Mh] Termos MeSH secundário: Adulto
Seres Humanos
Masculino
Oligospermia/sangue
Análise do Sêmen
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
9007-12-9 (Calcitonin)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171101
[Lr] Data última revisão:
171101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE


  8 / 5181 MEDLINE  
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[PMID]:28392474
[Au] Autor:Zheng J; Mao J; Cui M; Liu Z; Wang X; Xiong S; Nie M; Wu X
[Ad] Endereço:Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1#, Dongcheng District, Beijing 100730, China.
[Ti] Título:Novel FSHß mutation in a male patient with isolated FSH deficiency and infertility.
[So] Source:Eur J Med Genet;60(6):335-339, 2017 Jun.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Isolated follicle stimulating hormone (FSH) deficiency due to mutations in FSHß is an extremely rare autosomal recessive disease that has only been reported in ten patients to date. Symptoms of the disease include amenorrhoea and hypogonadism in women and azoospermia and normal testosterone levels in men. This study describes a Chinese male patient who presented with cryptorchidism and infertility. His serum hormonal profile revealed low FSH, elevated LH and normal testosterone levels. Sequence analysis identified a novel homozygous mutation in the FSHß gene (c.343C > T) predicted to result in a premature termination codon and a truncated FSH protein (p.R115X). Both parents were heterozygous carriers of the mutation with normal pubertal development and fertility. The patient's testicular volume increased after one year of exogenous FSH replacement therapy at which point spermatocytes were detected in seminal samples, indicating potential future spermatogenesis. The expanded spectrum of FSHß mutations and associated clinical manifestations described in this study may improve the diagnosis and treatment of this disease.
[Mh] Termos MeSH primário: Subunidade beta do Hormônio Folículoestimulante/genética
Hormônio Foliculoestimulante/deficiência
Mutação
Oligospermia/genética
[Mh] Termos MeSH secundário: Adulto
Códon de Terminação
Hormônio Foliculoestimulante/genética
Subunidade beta do Hormônio Folículoestimulante/uso terapêutico
Heterozigoto
Homozigoto
Terapia de Reposição Hormonal
Seres Humanos
Masculino
Oligospermia/diagnóstico
Oligospermia/tratamento farmacológico
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Terminator); 0 (Follicle Stimulating Hormone, beta Subunit); 9002-68-0 (Follicle Stimulating Hormone)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE


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[PMID]:28392002
[Au] Autor:Schachter-Safrai N; Karavani G; Levitas E; Friger M; Zeadna A; Lunenfeld E; Har-Vardi I
[Ad] Endereço:Fertility and IVF Unit, Department of Obstetrics and Gynecology, Soroka University Medical Center, Beer Sheva, Israel; Faculty of Health Science, Ben Gurion University of the Negev, Beer Sheva, Israel.
[Ti] Título:Does cryopreservation of sperm affect fertilization in nonobstructive azoospermia or cryptozoospermia?
[So] Source:Fertil Steril;107(5):1148-1152, 2017 May.
[Is] ISSN:1556-5653
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To compare intracytoplasmic sperm injection (ICSI) outcomes with the use of fresh or frozen-thawed ejaculated or testicular sperm in patients with cryptozoospermia or nonobstructive azoospermia. DESIGN: Retrospective cohort study. SETTING: Tertiary medical center IVF unit. PATIENT(S): A total of 274 patients evaluated from 1999 to 2011. INTERVENTION(S): A total of 103 patients underwent testicular sperm extraction (TESE) because of nonobstructive azoospermia, and 171 patients were diagnosed with cryptozoospermia. MAIN OUTCOME MEASURE(S): ICSI outcomes during the first cycle in each technique performed according to the sperm origin (testicular vs. ejaculated) and processing (frozen vs. fresh). RESULT(S): Forty-eight cycles with the use of frozen testicular sperm, 22 cycles with fresh testicular sperm, 66 cycles with frozen ejaculated sperm, and 138 cycles with fresh ejaculated sperm were examined. Significantly more motile sperm were found in the fresh ejaculate group compared with the frozen-thawed ejaculate group (96% vs. 88%, respectively). Furthermore, fresh ejaculated sperm were found to have better fertilization rates than frozen ejaculated sperm (64% vs. 56%, respectively). No significant difference was found between fresh and frozen-thawed testicular sperm, either in motile sperm available for ICSI or in fertilization rate (64% vs. 62% and 52% vs. 49%, respectively). CONCLUSION(S): In cases of cryptozoospermia, frozen-thawed ejaculated sperm is inferior to fresh ejaculated sperm in fertilization rates. However, in nonobstructive azoospermia, no major differences were found between fresh and frozen-thawed testicular sperm. Therefore, uncoupled TESE/oocyte pick-up (OPU) should be considered in NOA cases to prevent possible unnecessary ovarian stimulation and OPU when no sperm cells are detected.
[Mh] Termos MeSH primário: Azoospermia/terapia
Criopreservação/estatística & dados numéricos
Oligospermia/terapia
Resultado da Gravidez/epidemiologia
Preservação do Sêmen/estatística & dados numéricos
Injeções de Esperma Intracitoplásmicas/estatística & dados numéricos
[Mh] Termos MeSH secundário: Adulto
Azoospermia/patologia
Estudos de Coortes
Criopreservação/métodos
Feminino
Seres Humanos
Masculino
Oligospermia/patologia
Gravidez
Estudos Retrospectivos
Preservação do Sêmen/métodos
Manejo de Espécimes/métodos
Manejo de Espécimes/estatística & dados numéricos
Injeções de Esperma Intracitoplásmicas/métodos
Resultado do Tratamento
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170818
[Lr] Data última revisão:
170818
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170411
[St] Status:MEDLINE


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[PMID]:28384194
[Au] Autor:Wang YY; Lin YH; Wu YN; Chen YL; Lin YC; Cheng CY; Chiang HS
[Ad] Endereço:Department of Chemistry, Fu Jen Catholic University, New Taipei City, Taiwan.
[Ti] Título:Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.
[So] Source:PLoS Genet;13(4):e1006715, 2017 Apr.
[Is] ISSN:1553-7404
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF) and are associated with congenital bilateral absence of the vas deferens (CBAVD), which is the major cause of infertility in male patients with CF. However, most Taiwanese patients with CBAVD do not carry major CFTR mutations. Some patients have a single copy deletion of the solute carrier family 9 isoform 3 (SLC9A3) gene. SLC9A3 is a Na+/H+ exchanger, and depleted Slc9a3 in male mice causes infertility due to the abnormal dilated lumen of the rete testis and efferent ductules. Furthermore, SLC9A3 interacts with CFTR in the pancreatic duct and functions as a genetic modifier of CF. However, SLC9A3 function and its relation to CFTR expression in the male reproductive tract in vivo remain elusive. In the present study, we found that CFTR expression was dramatically decreased in the epididymis and vas deferens of Slc9a3 knockout mice. Adult Slc9a3-/- mice showed not only significantly decreased epididymis and vas deferens weight but also increased testis weight. Furthermore, Slc9a3-/- mice developed obstructive azoospermia because of abnormal abundant secretions and calcification in the lumen of the reproductive tract. Ultrastructural analysis of the epithelium in Slc9a3-/-epididymis and vas deferens displayed disorganized and reduced number of stereocilia and numerous secretory apparatuses. Our data revealed that interdependence between SLC9A3 and CFTR is critical for maintaining a precise microenvironment in the epithelial cytoarchitecture of the male reproductive tract. The Slc9a3-deficient mice with impaired male excurrent ducts in this study provide proof for our clinical findings that some Taiwanese of CBAVD carry SLC9A3 deletion but without major CFTR mutations.
[Mh] Termos MeSH primário: Regulador de Condutância Transmembrana em Fibrose Cística/biossíntese
Infertilidade Masculina/genética
Oligospermia/genética
Infecções Respiratórias/genética
Trocadores de Sódio-Hidrogênio/genética
[Mh] Termos MeSH secundário: Animais
Regulador de Condutância Transmembrana em Fibrose Cística/genética
Regulação da Expressão Gênica no Desenvolvimento
Seres Humanos
Infertilidade Masculina/patologia
Masculino
Camundongos
Camundongos Knockout
Mutação
Oligospermia/patologia
Ductos Pancreáticos/metabolismo
Ductos Pancreáticos/patologia
Infecções Respiratórias/patologia
Trocador 3 de Sódio-Hidrogênio
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (SLC9A3 protein, human); 0 (Slc9a3 protein, mouse); 0 (Sodium-Hydrogen Exchanger 3); 0 (Sodium-Hydrogen Exchangers); 126880-72-6 (Cystic Fibrosis Transmembrane Conductance Regulator)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170407
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pgen.1006715



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