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https://www.readbyqxmd.com/read/27882599/46-xx-males-a-case-series-based-on-clinical-and-genetics-evaluation
#1
F Mohammadpour Lashkari, M Totonchi, M R Zamanian, Z Mansouri, M A Sadighi Gilani, M Sabbaghian, A Mohseni Meybodi
46,XX male sex reversal syndrome is one of the rarest sex chromosomal aberrations. The presence of SRY gene on one of the X chromosomes is the most frequent cause of this syndrome. Based on Y chromosome profile, there are SRY-positive and SRY-negative forms. The purpose of our study was to report first case series of Iranian patients and describe the different clinical appearances based on their genetic component. From the 8,114 azoospermic and severe oligozoospermic patients referred to Royan institute, we diagnosed 57 cases as sex reversal patients...
November 24, 2016: Andrologia
https://www.readbyqxmd.com/read/27855957/age-and-duration-of-testosterone-therapy-predict-time-to-return-of-sperm-count-after-human-chorionic-gonadotropin-therapy
#2
Taylor P Kohn, Matthew R Louis, Stephen M Pickett, Mark C Lindgren, Jaden R Kohn, Alexander W Pastuszak, Larry I Lipshultz
OBJECTIVE: To determine factors that influence sperm recovery after T-associated infertility. DESIGN: Clinical retrospective study. SETTING: Academic male-infertility urology clinic. PATIENT(S): Sixty-six men who presented with infertility after T use. INTERVENTION(S): T cessation and combination high-dose hCG and selective estrogen modulator (SERM) therapy. MAIN OUTCOME MEASURE(S): Whether patients successfully achieved or failed to achieve a total motile count (TMC) of greater than 5 million sperm within 12 months of T cessation and initiation of therapy...
November 14, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27816927/use-of-testicular-sperm-for-icsi-in-oligozoospermic-couples-how-far-should-we-go
#3
REVIEW
Armand Zini, Phil V Bach, Ahmad H Al-Malki, Peter N Schlegel
In 1992 and subsequently, several reports indicated that ICSI was a successful technique to achieve clinical pregnancy and live birth using spermatozoa with severely impaired characteristics. The initial optimism over the ability of ICSI to overcome significant sperm abnormalities was later tempered by the findings of more recent publications suggesting that some sperm deficits may not be as effectively treated with ICSI. In search for effective treatment for couples with severe male factor, a number of small retrospective and prospective studies have reported high pregnancy and live birth rates using testicular sperm for men with necrozoospermia, cryptozoospermia and oligozoospermia with or without elevated sperm DNA damage...
November 5, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27803587/prevalence-of-chromosomal-abnormalities-and-y-chromosome-microdeletion-among-men-with-severe-semen-abnormalities-and-its-correlation-with-successful-sperm-retrieval
#4
Mariano Mascarenhas, Sumi Thomas, Mohan S Kamath, Ramya Ramalingam, Ann Marie Kongari, S Yuvarani, Vivi M Srivastava, Korula George
AIM: To estimate the prevalence of chromosomal abnormalities and Y chromosome microdeletion among men with azoospermia and severe oligozoospermia and its correlation with successful surgical sperm retrieval. SETTING AND DESIGN: A prospective study in a tertiary level infertility unit. MATERIALS AND METHODS: In a prospective observation study, men with azoospermia and severe oligozoospermia (concentration <5 million/ml) attending the infertility center underwent genetic screening...
July 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/27785898/outcome-of-intracytoplasmic-sperm-injection-using-fresh-and-cryopreserved-thawed-test%C3%A4-cular-spermatozoa-in-83-azoospermic-men-with-klinefelter-syndrome
#5
Kubilay Vicdan, Cem Akarsu, Eran Sözen, Burcu Buluç, Arzu Vicdan, Yıldırım Yılmaz, Kutay Biberoğlu
AIM: To report the outcome of intracytoplasmic sperm injection (ICSI) cycles using fresh or cryopreserved-thawed testicular spermatozoa of men with Klinefelter syndrome (KS). METHODS: Medical records of 83 azoospermic men with KS who underwent testicular sperm extraction (TESE) were reviewed. The clinical parameters for predicting sperm retrieval and fertilization, implantation, pregnancy and live birth rates of ICSI cycles in these patients were evaluated. RESULTS: A total of 88 TESE procedures were performed with sperm retrieval rates of 39...
November 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27785408/association-of-the-mthfr-c677t-rs1801133-polymorphism-with-idiopathic-male-infertility-in-a-local-pakistani-population
#6
M Irfan, M Ismail, M Azhar Beg, A Shabbir, A Rashid Kayani, G Kaukab Raja
The present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to determine MTHFR C677T (rs1801133) polymorphism...
July 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/27779755/single-gene-defects-leading-to-sperm-quantitative-anomalies
#7
REVIEW
Michael J Mitchell, Catherine Metzler-Guillemain, Toure Aminata, Charles Coutton, Christophe Arnoult, Pierre F Ray
Azoospermia, defined by the absence of sperm in the ejaculate, is estimated to affect up to 1% of men in the general population. Assisted reproductive technologies have revolutionized the treatment of infertility, and some azoospermic men, those with a post-meiotic defect, can conceive following the use of viable spermatoza recovered from testicular or epididymal biopsies. Although male infertility is a multifactorial disease, it is believed that genetic factors are predominant in the etiology of azoospermia and severe oligozoospermia...
October 25, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27739146/analysis-of-partial-azoospermia-factor-c-deletion-and-daz-copy-number-in-azoospermia-and-severe-oligozoospermia
#8
L Alimardanian, K Saliminejad, S Razi, A Ahani
Microdeletions of the azoospermia factor (AZF) regions in the Y chromosome are a well-known genetic cause of male infertility, resulting in impairment of spermatogenesis. However, the partial deletions of AZFc region related to spermatogenetic impairment are controversial. We investigated partial deletion of AZFc region and DAZ copy number in a population of Iranian infertile men and normozoospermic controls. In total, 154 infertile men (113 patients with azoospermia, 41 with oligozoospermia) and 111 normozoospermic controls were analysed using PCR...
November 2016: Andrologia
https://www.readbyqxmd.com/read/27733531/semen-quality-impairment-is-associated-with-sexual-dysfunction-according-to-its-severity
#9
F Lotti, G Corona, G Castellini, E Maseroli, M G Fino, M Cozzolino, M Maggi
STUDY QUESTION: Is sexual dysfunction associated with severity of semen quality impairment in men with couple infertility? SUMMARY ANSWER: In males of infertile couples the prevalence of erectile dysfunction (ED) increases as a function of semen quality impairment severity. WHAT IS KNOWN ALREADY: Infertile men are at a higher risk for sexual dysfunction, psychopathological and general health disorders. However, it has never been systematically investigated if these problems are associated with severity of semen quality impairment...
October 12, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27726449/single-nucleotide-polymorphisms-of-usp26-in-azoospermic-men
#10
Alice Luddi, Laura Crifasi, Antonella Quagliarello, Laura Governini, Vincenzo De Leo, Paola Piomboni
Some studies have focused on the association between male infertility and single nucleotide polymorphisms (SNPs) in the ubiquitin-specific protease 26 (USP26) gene, but the results are controversial. In this case-control study including both normozoospermic men and patients with nonobstructive azoospermia, we analyzed both the entire coding region and 5' and 3' untranslated regions of USP26 in order to identify genetic variants in this gene to investigate the role of USP26 on spermatogenesis. We reported variations in the USP26 gene sequence in 82% of azoospermic and in 50% normospermic men...
October 11, 2016: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/27709649/histological-alterations-in-leydig-cells-and-macrophages-in-azoospermic-men
#11
A M Mahran, D A Elgamal, H H Ghafeer, S A Abdel-Maksoud, A A Farrag
The study aimed to compare the histological features of Leydig cells and macrophages in the testicular interstitium of obstructive versus nonobstructive azoospermia. Thirty-nine azoospermic men undergoing testicular sperm extraction during intracytoplasmic sperm injection were allocated into obstructive azoospermia group (GI) and nonobstructive azoospermia group (GII) which was subdivided into Sertoli cell-only syndrome (GIIA), germ cell arrest (GIIB) and hypospermatogenesis (GIIC) subgroups. Serum LH, FSH and testosterone levels were measured...
October 6, 2016: Andrologia
https://www.readbyqxmd.com/read/27621105/analysis-of-semen-parameters-in-a-young-cohort-of-cancer-patients
#12
Amanda M DiNofia, Xingmei Wang, Gia Yannekis, Sue Ogle, Wendy L Hobbie, Claire A Carlson, Jill P Ginsberg
BACKGROUND: Infertility can be the result of some common cancer treatments and can significantly impact quality of life. Semen cryopreservation allows for fertility preservation. We analyzed the semen parameters of specimens collected from pubertal males from the Children's Hospital of Philadelphia (CHOP) in order to expand current knowledge on the quality of these specimens and inform a standard clinical practice. PROCEDURE: Males who were at least Tanner stage III and newly diagnosed with cancer at CHOP were approached regarding sperm banking...
September 13, 2016: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/27536043/y-chromosomal-genes-affecting-male-fertility-a-review
#13
REVIEW
Jasdeep Kaur Dhanoa, Chandra Sekhar Mukhopadhyay, Jaspreet Singh Arora
The mammalian sex-chromosomes (X and Y) have evolved from autosomes and are involved in sex determination and reproductive traits. The Y-chromosome is the smallest chromosome that consists of 2-3% of the haploid genome and may contain between 70 and 200 genes. The Y-chromosome plays major role in male fertility and is suitable to study the evolutionary relics, speciation, and male infertility and/or subfertility due to its unique features such as long non-recombining region, abundance of repetitive sequences, and holandric inheritance pattern...
July 2016: Veterinary World
https://www.readbyqxmd.com/read/27526630/undergoing-varicocele-repair-before-assisted-reproduction-improves-pregnancy-rate-and-live-birth-rate-in-azoospermic-and-oligospermic-men-with-a-varicocele-a-systematic-review-and-meta-analysis
#14
E Will Kirby, Laura Elizabeth Wiener, Saneal Rajanahally, Karen Crowell, Robert M Coward
OBJECTIVE: To evaluate how varicocele repair (VR) impacts pregnancy (PRs) and live birth rates in infertile couples undergoing assisted reproduction wherein the male partner has oligospermia or azoospermia and a history of varicocele. DESIGN: Systematic review and meta-analysis. SETTING: Not applicable. PATIENT(S): Azoospermic and oligospermic males with varicoceles and in couples undergoing assisted reproductive technology (ART) with IUI, IVF, or testicular sperm extraction (TESE) with IVF and intracytoplasmic sperm injection (ICSI)...
August 12, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27521770/fertility-counseling-and-preservation-practices-in-youth-with-lupus-and-vasculitis-undergoing-gonadotoxic-therapy
#15
Leena Nahata, Vidya Sivaraman, Gwendolyn P Quinn
OBJECTIVE: To assess fertility counseling and preservation practices among children, adolescents, and young adults with rheumatic diseases undergoing cyclophosphamide (CTX) treatment. DESIGN: Retrospective chart review (2006-2016). SETTING: Academic pediatric center. PATIENT(S): Male and female patients with systemic lupus erythematosus, Wegener's granulomatosis/granulomatosis with polyangiitis, or other vaculitides, receiving CTX treatment...
August 10, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27496608/alterations-of-testis-specific-promoter-methylation-in-cell-free-seminal-deoxyribonucleic-acid-of-idiopathic-nonobstructive-azoospermic-men-with-different-testicular-phenotypes
#16
Chunlin Wu, Xiaofang Ding, Huiping Tan, Honggang Li, Chengliang Xiong
OBJECTIVE: To explore the feasibility of quantification of testicular DNA methylation from cell-free seminal DNA (cfsDNA), and analyze promoter methylation alterations in men with idiopathic nonobstructive azoospermia (NOA). DESIGN: Comparison between testicular DNA and paired cfsDNA, and among NOA patients with different testicular phenotypes. SETTING: Academic research institute and andrology practice. PATIENT(S): Eighty-eight idiopathic NOA patients with different testicular phenotypes and 24 normozoospermic men...
August 2, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27476656/truncating-mutations-in-the-adhesion-g-protein-coupled-receptor-g2-gene-adgrg2-cause-an-x-linked-congenital-bilateral-absence-of-vas-deferens
#17
Olivier Patat, Adrien Pagin, Aurore Siegfried, Valérie Mitchell, Nicolas Chassaing, Stanislas Faguer, Laetitia Monteil, Véronique Gaston, Louis Bujan, Monique Courtade-Saïdi, François Marcelli, Guy Lalau, Jean-Marc Rigot, Roger Mieusset, Eric Bieth
In 80% of infertile men with obstructive azoospermia caused by a congenital bilateral absence of the vas deferens (CBAVD), mutations are identified in the cystic fibrosis transmembrane conductance regulator gene (CFTR). For the remaining 20%, the origin of the CBAVD is unknown. A large cohort of azoospermic men with CBAVD was retrospectively reassessed with more stringent selection criteria based on consistent clinical data, complete description of semen and reproductive excurrent ducts, extensive CFTR testing, and kidney ultrasound examination...
August 4, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27469438/pregnancy-after-intracytoplasmic-sperm-injection-following-extended-sperm-preparation-and-hormone-therapy-in-an-azoospermic-man-with-maturation-arrest-and-microlithiasis-a-case-report-and-literature-review
#18
A-L Barbotin, C Ballot, J Sigala, M Leroy, J-M Rigot, D Dewailly, G Robin, V Mitchell
In the management of azoospermia, a combination of testicular sperm extraction and intracytoplasmic sperm injection (ICSI) is usually the most successful option for fatherhood. However, an outstanding question remains: How can at least a few spermatozoa be obtained from the ejaculate, thus avoiding the need for a surgical procedure? A 36-year-old man presented to Assisted Reproduction Unit with his 26-year-old wife. The ultrasound assessment revealed bilateral microlithiasis. Two spermograms revealed absolute azoospermia...
July 29, 2016: Andrologia
https://www.readbyqxmd.com/read/27469285/stemness-of-spermatogonial-stem-cells-encapsulated-in-alginate-hydrogel-during-cryopreservation
#19
A Pirnia, K Parivar, M Hemadi, P Yaghmaei, M Gholami
This study investigated the effect of spermatogonial stem cell encapsulated in alginate hydrogel during cryopreservation, as cells were protected against damage during cryopreservation within the hydrogel. Spermatogonial stem cells were isolated from the testes of Balb/c mice pups (6 days old), purified in laminin-coated dishes and CD90.1 microbeads, encapsulated in alginate hydrogel and then cryopreserved. After thawing, cell viability and Spermatogonial stem cell (SSC) colony diameter were evaluated. After RNA was isolated and cDNA was synthesised, the expression of stemness genes was considered using RT real-time PCR...
July 29, 2016: Andrologia
https://www.readbyqxmd.com/read/27444581/a-differential-cytokine-expression-profile-before-and-after-rfsh-treatment-in-sertoli-cell-cultures-of-men-with-nonobstructive-azoospermia
#20
S Heidargholizadeh, S E Aydos, Y Yukselten, S Ozkavukcu, A Sunguroglu, K Aydos
To evaluate the effects of follicle-stimulating hormone (FSH) treatment on cytokine gene expression in cultured Sertoli cells from men with nonobstructive azoospermia, a total of 15 azoospermic men diagnosed as obstructive azoospermia (OA) (n = 5) and nonobstructive azoospermia (NOA) (n = 10) were included in the study. NOA patients were split into two further subgroups: nFSH and hFSH serum FSH levels. Expression of cytokine gene panel (88 genes), FSHR and ABP was evaluated by real-time PCR array analysis...
July 21, 2016: Andrologia
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