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C Krausz, Francesca Cioppi, Antoni Riera-Escamilla
Male infertility affects about 7% of the general male population, and it is a multifactorial, polygenic pathological condition. Known genetic factors, accounting for about 20-25% of male factor infertility, are present in each etiological category: i) hypothalamic-pituitary axis dysfunction; ii) quantitative and qualitative alterations of spermatogenesis; iii) ductal obstruction/dysfunction. Areas covered: All routinely available genetic tests are described. Indication for testing for chromosomal anomalies and Y chromosome microdeletions is based on sperm count (severe oligozoospermia/azoospermia)...
March 15, 2018: Expert Review of Molecular Diagnostics
M Cunha-Silva, V N Brito, D B Macedo, D S Bessa, C O Ramos, L G Lima, P S Barroso, I J P Arnhold, D L Segaloff, B B Mendonca, A C Latronico
Testotoxicosis is a rare cause of peripheral precocious puberty in boys caused by constitutively activating mutations of the LHCG receptor. Affected males usually have normal gonadotropin profiles and fertility in their adult life. Here, we described the long-term follow-up of a 24-year-old young man with severe testotoxicosis due to a de novo activating mutation in the third transmembrane helix of the LHCGR (p.Leu457Arg). This patient was treated with different medications, including medroxyprogesterone acetate, ketoconazole, cyproterone acetate and aromatase inhibitor from age 2...
March 12, 2018: Human Reproduction
Timothy G Jenkins, Lihua Liu, Kenneth I Aston, Douglas T Carrell
Sperm epigenetic profiles are frequently studied and are of great interest in many fields. One major technical concern when assessing these marks is the potential for somatic cell contamination. Because somatic cells have dramatically different epigenetic signatures, even small levels of contamination can result in significant problems in analysis and interpretation of data. In this study we evaluate an assay, which we designed to offer a reliable 'pre-screen' for somatic cell contamination that directly assesses the DNA being used in the study to determine tissue purity...
April 2018: Systems Biology in Reproductive Medicine
Serkan Carkci, Ebru Onalan Etem, Seda Ozaydin, Ahmet Karakeci, Ahmet Tektemur, Tunc Ozan, Irfan Orhan
Background: Infertility is described as not receiving pregnancy despite unprotected and regular sexual intercourse in a 1 yr period. It is detected by 15% of the couples. Male and female factor in the etiology may be detected in similar rates. Objective: The present study aims to investigate ion channel gene expression in semen samples of infertile male compared with fertile men. Materials and Methods: A total of 150 men who applied to the urology clinic due to infertility were divided into five equal groups: asthenozoospermia, oligozoospermia, oligoasthenoteratozoospermia, teratozoospermia, and normozoospermia (control)...
December 2017: International Journal of Reproductive Biomedicine (Yazd, Iran)
Mili Nailwal, Jenabhai B Chauhan
The azoospermia factor (AZF) region on the Y chromosome consists of genes required for spermatogenesis. Among the three subregions, the AZFc subregion located at the distal portion of AZF is the driver for genetic variation in Y chromosome. The candidate gene of AZFc is known as deleted in azoospermia gene, which is studied with interest because it is involved in germ cell development and most frequently deleted genes leading to oligozoospermia and azoospermia. Recently, two partial deletions in AZFc gr/gr and b2/b3 are characterized at the molecular level which showed homologous recombination between amplicons, affecting spermatogenesis process...
October 2017: Journal of Human Reproductive Sciences
Kei Takasawa, Maki Igarashi, Makoto Ono, Akira Takemoto, Shuji Takada, Atsuyuki Yamataka, Tsutomu Ogata, Tomohiro Morio, Maki Fukami, Kenichi Kashimada
Recently, a heterozygous missense mutation in NR5A1, p.R92W, was identified as a cause of 46,XX testicular/ovo-testicular disorders of sexual development (DSD). We report a sibling pair with 46,XX DSD due to an NR5A1 mutation with distinct phenotypes, including external and internal genitalia and gonads, for whom different rearing sexes were selected. Thus, the phenotypes of p.R92W vary, even within a family. The father of the patients showed oligozoospermia with the p.R92W mutation, suggesting that in 46,XY individuals, the mutation would cause various gonadal phenotypes...
2017: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Kwan-Ii Kim, Junyoung Jo
Male factor subfertility has increasingly been considered the cause of infertility in couples. Many men with male infertility have sperm problems such as oligozoospermia, asthenozoospermia, or teratozoospermia. Because abnormal semen parameters are idiopathic to some extent, no standard therapy has been established to date. Herbal medicine has been reported to have beneficial properties in the treatment of subfertility, especially in improving semen quality both in vivo and in human studies. Therefore, we intend to investigate the effectiveness and safety of treatment using Korean medicine (KM) for infertile male patients with poor semen quality...
January 2018: Medicine (Baltimore)
Z Qiu, Q Chu, W Zhang, C Luo, S Quan
Neutral alpha-1,4-glucosidase (NAG) is a crucial biomarker for the function of epididymis and is reported to be associated with semen quality. However, the correlation between NAG and Chinese semen quality has never been reported. This study aimed to investigate the level of NAG in the seminal plasma of Chinese men. A total of 394 cases of seminal plasma samples from normal, subfertile and infertile men were enrolled in this study. Male subfertility was caused by teratozoospermia, asthenospermia, severe oligozoospermia, asthenoteratozoospermia, oligoasthenospermia and oligoasthenoteratozoospermia...
December 28, 2017: Andrologia
Xinyue Zhang, Hongguo Zhang, Cong Hu, Ruixue Wang, Qi Xi, Ruizhi Liu
OBJECTIVE: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. MATERIALS AND METHODS: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility...
December 11, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
Ashok Agarwal, Chak-Lam Cho, Ahmad Majzoub, Sandro C Esteves
Sperm DNA fragmentation (SDF) testing has been emerging as a valuable tool for male fertility evaluation. While the essential role of sperm DNA integrity in human reproduction was extensively studied, the clinical indication of SDF testing is less clear. This clinical practice guideline provides recommendations of clinical utility of the test supported by evidence. It is intended to serve as a reference for fertility specialists in identifying the circumstances in which SDF testing should be of greatest clinical value...
September 2017: Translational Andrology and Urology
Sayon Basu, Satya Pal Arya, Abul Usmani, Bhola Shankar Pradhan, Rajesh Kumar Sarkar, Nirmalya Ganguli, Mansi Shukla, Kamal Mandal, Surendra Singh, Kanchan Sarda, Subeer S Majumdar
Testicular Sertoli cells make a niche for the division and differentiation of germ cells. Sertoli cells respond to increased follicle-stimulating hormone (FSH) and testosterone (T) levels at the onset of puberty by producing paracrine factors which affect germ cells and trigger robust onset of spermatogenesis. Such paracrine support to germ cells is absent during infancy, despite Sertoli cells being exposed to high FSH and T within the infant testis. This situation is similar to certain cases of male idiopathic infertility where post-pubertal Sertoli cells fail to support germ cell division and differentiation in spite of endogenous or exogenous hormonal support...
October 24, 2017: Cell and Tissue Research
Kazuyo Nishikawa, Fumiaki Itoi, Miki Nagahara, Mami Jose, Ayumi Matsunaga, Jun Ueda, Takashi Iwamoto
PURPOSE: The purpose of this report is to analyze the chromosome status and fertilization capability of sperm obtained from an infertile male patient with ring chromosome 15. METHODS: This was a case report at a private in vitro fertilization clinic. A man diagnosed with severe oligozoospermia carrying ring chromosome 15. To evaluate the chromosome status and fertilization capability, sperm from a patient carrying ring chromosome 15 were injected into enucleated mouse oocytes...
October 23, 2017: Journal of Assisted Reproduction and Genetics
Shin Young Kim, Hyun Jin Kim, Bom Yi Lee, So Yeon Park, Hyo Serk Lee, Ju Tae Seo
BACKGROUND: The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men and to analyze the relationship between the levels of reproductive hormones and Y microdeletions. METHODS: A total of 1,226 infertile men were screened for Y chromosome microdeletions using multiplex PCR assay. Karyotype analysis was performed on peripheral blood lymphocytes with standard G-banding. Serum reproductive hormone levels were measured...
July 2017: Journal of Reproduction & Infertility
Lin Li, Yan-Wei Sha, Zhi-Ying Su, Li-Bin Mei, Zhi-Yong Ji, Qing Zhang, Shao-Bin Lin, Xu Wang, Ping-Ping Qiu, Ping Li, Chenghong Yin
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...
January 10, 2018: Gene
S Gunes, A Agarwal, R Henkel, A M Mahmutoglu, R Sharma, S C Esteves, A Aljowair, D Emirzeoglu, A Alkhani, L Pelegrini, A Joumah, E Sabanegh
MLH1 and MSH2 are important genes for DNA mismatch repair and crossing over during meiosis and are implicated in male infertility. Therefore, the methylation patterns of the DNA mismatch repair genes MLH1 and MSH2 in oligozoospermic males were investigated. Ten oligozoospermic patients and 29 normozoospermic donors were analysed. Methylation profiles of the MLH1 and MSH2 promotors were analysed. In addition, sperm motility and seminal reactive oxygen species (ROS) were recorded. Receiver operating characteristic (ROC) analysis was conducted to determine the accuracy of the DNA methylation status of MLH1 and MSH2 to distinguish between oligozoospermic and normozoospermic men...
October 6, 2017: Andrologia
Youichi Sato, Chise Hasegawa, Atsushi Tajima, Shiari Nozawa, Miki Yoshiike, Eitetsue Koh, Jiro Kanaya, Mikio Namiki, Kiyomi Matsumiya, Akira Tsujimura, Kiyoshi Komatsu, Naoki Itoh, Jiro Eguchi, Aiko Yamauchi, Teruaki Iwamoto
PURPOSE: Recently, genome-wide association studies of a Hutterite population in the USA revealed that five single nucleotide polymorphisms (SNPs) with a significant association with sperm quality and/or function in ethnically diverse men from Chicago were significantly correlated with family size. Of these, three SNPs (rs7867029, rs7174015, and rs12870438) were found to be significantly associated with the risk of azoospermia and/or oligozoospermia in a Japanese population. In this study, we investigated whether the rs10966811 (located in an intergenic region between the TUSC1 and IZUMO3 genes) and rs10129954 (located in the DPF3 gene) SNPs, previously related to family size, are associated with male infertility...
October 3, 2017: Journal of Assisted Reproduction and Genetics
Tayyebeh Zamani-Badi, Mohammad Karimian, Abolfazl Azami-Tameh, Hossein Nikzad
In this study we investigate the association of C3953T transition single nucleotide polymorphism in the fifth exon of the interleukin 1β gene with idiopathic male infertility. In a case-control study, blood samples were collected from 230 fertile and 207 infertile men who referred to the Kashan IVF centre. Genotypes of samples at the C3953T location were determined by polymerase chain reaction-restriction fragment length polymorphism. The data showed a significant association of TT genotype (OR = 2.49, 95%CI = 1...
October 3, 2017: Human Fertility: Journal of the British Fertility Society
Mili Nailwal, Jenabhai B Chauhan
INTRODUCTION: Azoospermia Factor (AZF) microdeletions in Yq chromosome is one of the most frequent genetic cause associated with failure of spermatogenesis in males with infertility. AIM: To figure out the Yq chromosome microdeletions frequency in infertile men from Gujarat region of India. MATERIALS AND METHODS: In this study, 141 infertile men with azoospermia (n=41) and oligozoospermia (n=100) were examined along with 159 normozoospermic men...
August 2017: Journal of Clinical and Diagnostic Research: JCDR
Bihari L Mehra, Kalanghot P Skandhan, Buduru S Prasad, Godatwar Pawankumar, Gurdip Singh, Vasudevan Jaya
INTRODUCTION: Worldwide, male responsible infertility is on the rise. In this retrospective study, we evaluated the infertility rate of this area. MATERIALS AND METHODS: Cases reported from 1989 to 1993 to the Institute for Post Graduate Teaching and Research in Ayurved University were studied. Semen reports were also scrutinized. RESULTS: A total number of 1,17,979 cases were examined. Male infertility rate was 45%. Patients' semen report showed that they were with oligozoospermia (22%), asthenozoospermia (11%) and azoospermia (12%)...
September 22, 2017: Urologia
Damian Best, Alison Avenell, Siladitya Bhattacharya
BACKGROUND: The prevalence of obesity is increasing worldwide, with a corresponding increase in overweight and obese patients referred with infertility. This systematic review aimed to determine whether non-surgical weight reduction strategies result in an improvement in reproductive parameters affected by obesity, e.g. delayed time to pregnancy, oligozoospermia and azoospermia. No prior reviews have examined this within the general fertility population, or in both sexes. OBJECTIVE AND RATIONALE: Our objective was to answer the question: 'In overweight and obese women, men and couples seeking fertility treatment, what non-surgical weight-loss interventions have been used, and how effective are they at weight loss and improving reproductive outcomes?' SEARCH METHODS: An electronic search of MEDLINE, EMBASE and the Cochrane Library was performed for studies between January 1966 and March 2016...
November 1, 2017: Human Reproduction Update
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