Genetic analysis of the human Insulin-like 3 gene: absence of mutations in a Greek paediatric cohort with testicular maldescent.

Abstract:

:This study investigated the hypothesis that genetic alterations of the human insulin-like 3 (INSL3) gene are associated with testicular maldescent (TMD). Genomic DNA was extracted and amplified from peripheral blood samples of 170 unrelated children with all possible phenotypical expressions of TMD and 50 volunteers with normal external genitalia from the general paediatric population (controls). PCR-single strand conformation polymorphism analysis was used to screen INSL3 gene for genetic variants. For rapid screening of a detected nonsilent genetic alteration, restriction assay using endonuclease Eag I was further employed. Products were analysed on 2% agarose gel and restriction patterns were visualised by ethidium bromide. Differences in genotype and allelic distributions of nonsilent genetic alterations were evaluated between (i) patients-controls, (ii) familial-sporadic, (iii) bilateral-unilateral and (iv) intra-abdominal-inguinal cases of TMD. No mutations were detected. Three common INSL3 gene polymorphisms (27G>A, 126G>A, 178G>A) unrelated to any particular phenotype of TMD were detected both in patients and controls. These results indicate that INSL3 gene mutations are not a common cause of TMD in the human.

journal_name

Andrologia

journal_title

Andrologia

authors

Mamoulakis C,Georgiou I,Dimitriadis F,Tsounapi P,Giannakis I,Chatzikyriakidou A,Antypas S,Sofras F,Takenaka A,Sofikitis N

doi

10.1111/and.12184

subject

Has Abstract

pub_date

2014-01-01 00:00:00

pages

986-96

issue

9

eissn

0303-4569

issn

1439-0272

journal_volume

46

pub_type

杂志文章,评审
  • Men regret anabolic steroid use due to a lack of comprehension regarding the consequences on future fertility.

    abstract::We examined whether men with anabolic-steroid-induced hypogonadism (ASIH) seeking testosterone supplementation therapy (TST) regretted their decision to use anabolic-androgenic steroids (AAS) and what their reasons were for this regret. An anonymous, prospective survey was distributed to 382 men seeking follow-up trea...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12340

    authors: Kovac JR,Scovell J,Ramasamy R,Rajanahally S,Coward RM,Smith RP,Lipshultz LI

    更新日期:2015-10-01 00:00:00

  • Decreased polyunsaturated and increased saturated fatty acid concentration in spermatozoa from asthenozoospermic males as compared with normozoospermic males.

    abstract::The lipid composition of the sperm membrane has been shown to exert a significant effect upon the functional quality of spermatozoa. We have studied fatty acid composition of the phospholipids in spermatozoa in asthenozoospermic and normozoospermic men and determined the ratio of polyunsaturated fatty acids (PUFAs) to...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2006.00735.x

    authors: Tavilani H,Doosti M,Abdi K,Vaisiraygani A,Joshaghani HR

    更新日期:2006-10-01 00:00:00

  • Blueberries prevent the effect of intermittent hypobaric hypoxia in rat epididymis.

    abstract::Intermittent hypobaric hypoxia (IHH) induced a decrease in sperm count and oxidative damage in epididymis. We have previously demonstrated that a blueberry-enriched polyphenol extract (BB-4) reduced the adverse effects of oxidative stress in rat testis under hypobaric hypoxia. The aim of this study was to evaluate whe...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12146

    authors: Zepeda AB,Calaf GM,Figueroa CA,Farías JG

    更新日期:2014-09-01 00:00:00

  • Unconjugated 5 alpha-androstan-3 alpha, 17 beta-diol and 5 alpha-androstane-3 beta, 17 beta-diol in normal and pathological human seminal plasma. Comparison with testosterone, 5 alpha-dihydrotestosterone and testosterone-glucosiduronate.

    abstract::By means of specific RIA unconjugated 5 alpha-androstan-3 alpha, 17 beta-diol (3 alpha-diol) and 5 alpha-androstane-3 beta, 17 beta-diol (3 beta-diol) have been estimated for the first time in normal and pathological human seminal plasma. Testosterone, 5 alpha-dihydrotestosterone and testosterone-glucosiduronate (T, D...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:

    authors: Kurniawan E,Tamm J,Volkwein U,Schirren C

    更新日期:1983-03-01 00:00:00

  • Methamphetamine induces abnormal sperm morphology, low sperm concentration and apoptosis in the testis of male rats.

    abstract::Methamphetamine has been reported to be an important drug in the field of reproductive toxicology. The aim of this study was to investigate the effects of methamphetamine administrations on sperm morphology, sperm concentration and apoptotic activity inside seminiferous tubule in male rats. Rats were administered a do...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2010.01071.x

    authors: Nudmamud-Thanoi S,Thanoi S

    更新日期:2011-08-01 00:00:00

  • Cryopreservation of human testicular diploid germ cell suspensions.

    abstract::For patients with threatened fertility, preservation of it is a major concern. Although promising results have been obtained in animal models using testicular germ cell suspensions, in humans, it is crucial to first develop an efficient method of cryopreservation to be able to apply to transplantation. Thus, four reli...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2012.01290.x

    authors: Sá R,Cremades N,Malheiro I,Sousa M

    更新日期:2012-12-01 00:00:00

  • Effects of cyproterone acetate on spontaneous contractility of the rat epididymis.

    abstract::The spontaneous contractility of the rat epididymis was recorded in vivo and the effects of cyproterone acetate were studied. At 7 days after cyproterone acetate daily administration the records of the epididymal contractility did not show significant differences from the records obtained in control animals. On the co...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1977.tb01682.x

    authors: Hib J,Ponzio RO

    更新日期:1977-10-01 00:00:00

  • Mitochondria-targeted antioxidant SkQ1 improves spermatogenesis in Immp2l mutant mice.

    abstract::Previous studies have confirmed that spermatogenesis in homozygous Immp2l mutant male mice was normal at the age of 6 months, but was significantly abnormal at the age of 13 months. Meanwhile, oxidative stress is reported to be involved in spermatogenic impairment in old mutant mice. However, it is unclear whether ant...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12848

    authors: Jiang Y,Liu C,Lei B,Xu X,Lu B

    更新日期:2018-03-01 00:00:00

  • Relationship between penile erection and the ratio of estradiol to testosterone: A retrospective study.

    abstract::Previous studies have found that the ratio of estradiol to testosterone (E2/T ratio) has a negative effect on sexual function, but the relationship between the E2/T ratio and erection of the penis is not clarified. We conducted a retrospective study of 183 patients with erectile dysfunction and 52 healthy men to inves...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13701

    authors: Pan D,Xu ZH,Gao Q,Li M,Guan Y,Zhao ST

    更新日期:2020-10-01 00:00:00

  • Black soot exposure induced hypothalamic and testicular oxidative stress and apoptosis in male rats.

    abstract::Air pollution constitutes the largest cause of environmental risks today. At present, no scientific publication linking environmental black soot and derangement in the hypothalamus and testis of rats exists. This study investigated the effect of black soot exposure on hypothalamic and testicular functions of male rats...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13866

    authors: Onyeso G,Bohr EL,Nkpaa KW,Amadi PN,Ugwu AC

    更新日期:2020-12-01 00:00:00

  • Sperm selection strategies and their impact on assisted reproductive technology outcomes.

    abstract::The application of assisted reproductive technologies (ART) has revolutionised the treatment of human infertility, giving hope to the patients previously considered incapable of establishing pregnancy. While semen analysis is performed to access whether a sample has an adequate number of viable, motile and morphologic...

    journal_title:Andrologia

    pub_type: 杂志文章,评审

    doi:10.1111/and.13725

    authors: Pinto S,Carrageta DF,Alves MG,Rocha A,Agarwal A,Barros A,Oliveira PF

    更新日期:2020-06-28 00:00:00

  • Disorder of hypothalamic-pituitary-gonadal axis induced by abusing of anabolic-androgenic steroids for short time: A case report.

    abstract::The aim of this study was to evaluate the hypothalamic-pituitary-gonadal axis functionality on a bodybuilding competitioner before, during and after the use of anabolic-androgenic steroids. A young healthy man was followed up for 4 months. The subject reported his drug administration protocol through periodic intervie...

    journal_title:Andrologia

    pub_type:

    doi:10.1111/and.13107

    authors: Vilar Neto JO,da Silva CA,Lima AB,Caminha JSR,Pinto DV,Alves FR,Araújo JS,Daher EF

    更新日期:2018-11-01 00:00:00

  • The Estonian version of the National Institutes of Health chronic prostatitis symptom index.

    abstract::Our aim was to establish the Estonian version of the National Institutes of Health chronic prostatitis symptom index (NIH-CPSI), and to examine its validity and applicability in chronic prostatitis patients as well as in community-based study. The questionnaire was tested in 54 category III prostatitis patients. In ad...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2006.00723.x

    authors: Korrovits P,Punab M,Mehik A,Mändar R

    更新日期:2006-06-01 00:00:00

  • Serum sperm antibodies after diarrhoeal diseases.

    abstract::The origin of 'natural' anti-sperm antibodies found in fertile humans, virgin girls, and boys before puberty, is quite obscure. One hypothetical mechanism relates their existence to inflammatory gastrointestinal entities: as a result of the disease, cross-reactive antibodies produced against gastrointestinal flora bin...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2007.00772.x

    authors: Kalaydjiev S,Dimitrova D,Mitov I,Dikov I,Nakov L

    更新日期:2007-06-01 00:00:00

  • Relationship of thyroid to estramustine binding protein (EMBP) concentration in rat prostate.

    abstract::Alternations of estramustine binding protein (EMBP) concentration in rat prostate in relation to androgen status under hypo- and hyperthyroid conditions was estimated by means of radioimmunoassay (RIA). In hyperthyroid rats, EMBP concentration in dorsal as well as in lateral prostate was not significantly changed, but...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1991.tb02518.x

    authors: Shiina H,Sumi H,Ishibe T,Usui T

    更新日期:1991-03-01 00:00:00

  • Seminal vesicles of infertile patients with male accessory gland infection: ultrasound evaluation after prolonged treatment with tadalafil, a selective phosphodiesterase-5 inhibitor.

    abstract::The aim of this study was to investigate possible ultrasound seminal vesicle (SV) changes in infertile patients with 'hypertrophic-congestive' (HCUF) or 'fibro-sclerotic' (FSUF) ultrasound form of male accessory gland infection (MAGI) after prolonged administration of tadalafil (TAD), a selective phosphodiesterase-5 i...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12027

    authors: La Vignera S

    更新日期:2013-12-01 00:00:00

  • Effect of nonylphenol on spermatogenesis: A systematic review.

    abstract::Nonylphenol (NP) is known as an environmental pollutant that has adverse effects on the spermatogenesis process. In this review, we focus on (1999-2020) studies on the effect of this pollutant on the sperm parameters and the male reproductive system. Spermatogenesis is a process in which male spermatogonia (primary ge...

    journal_title:Andrologia

    pub_type: 杂志文章,评审

    doi:10.1111/and.13748

    authors: Malmir M,Faraji T,Ghafarizadeh AA,Khodabandelo H

    更新日期:2020-07-14 00:00:00

  • Maternal and infant characteristics influencing the anogenital distance and penile length in newborns.

    abstract::Recent studies have suggested that maternal characteristics can affect reproductive health of offspring, possibly through pre-natal hormonal influence. Anogenital distance (AGD) is an anthropometric measure which is a sensitive reproductive endpoint of masculinisation. It provides a read-out of pre-natal androgen expo...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12507

    authors: Singal AK,Jain VG

    更新日期:2016-08-01 00:00:00

  • Effects of semen processing on the generation of reactive oxygen species and mitochondrial membrane potential of human spermatozoa.

    abstract::This study was designed to evaluate the effects of semen processing on the generation of intracellular reactive oxygen species (ROS) and mitochondrial membrane potential (MMP) in spermatozoa, and to develop reliable indexes for the evaluation of sperm quality during sperm preparation. Swim-up and density gradient cent...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2010.01123.x

    authors: Li Z,Zhou Y,Liu R,Lin H,Liu W,Xiao W,Lin Q

    更新日期:2012-06-01 00:00:00

  • Effects of long-term treatment with human pure follicle-stimulating hormone on semen parameters and sperm-cell ultrastructure in idiopathic oligoteratoasthenozoospermia.

    abstract::Ten subfertile men affected by idiopathic oligoteratoasthenozoospermia and exhibiting normal serum hormone levels received a long-term treatment with human pure follicle-stimulating hormone (hp-FSH) (150 IU, intramuscularly, three times per week for 6 months). Semen parameters and ultrastructural features of spermatoz...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1046/j.1439-0272.2000.00358.x

    authors: Arnaldi G,Balercia G,Barbatelli G,Mantero F

    更新日期:2000-05-01 00:00:00

  • Toxic environmental chemicals in human semen: analytical method and case studies.

    abstract::In 1982, 89 men from all over the FRG participated in an investigation of sperm density and the presence of selected persistent environmental chemicals in their semen. Semen concentrations for the following chemicals were measured: lead, cadmium, hexachlorobenzene (HCBC), a-hexachlorocyclohexane (a-BHC), DDT and metab...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:

    authors: Stachel B,Dougherty RC,Lahl U,Schlösser M,Zeschmar B

    更新日期:1989-05-01 00:00:00

  • The evaluation of free-L-carnitine, zinc and fructose in the seminal plasma of patients with varicocele and normozoospermia.

    abstract::The function of the epididymis and of the sex accessory glands have been investigated in a selected group of varicocele patients with normal sperm count. In the seminal plasma of these patients free-L-carnitine, fructose and zinc levels were determined as functional markers respectively of epididymis, seminal vesicles...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:

    authors: Andó S,Carpino A,Buffone M,Maggiolini M,Sisci D

    更新日期:1989-03-01 00:00:00

  • Treatment of oligozoospermia with tamoxifen (open and controlled studies).

    abstract::Open and double-blind therapeutic studies were carried out on the effects of tamoxifen in oligozoospermia. The examinations involved 74 patients. The first group (n = 20) received tamoxifen 20 mg/day; the second group (n = 54) got tamoxifen or placebo for 3 months. In the open study, tamoxifen treatment led to signifi...

    journal_title:Andrologia

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1439-0272.1985.tb01048.x

    authors: Török L

    更新日期:1985-09-01 00:00:00

  • Ultrasonographic evaluation of patients with male accessory gland infection.

    abstract::MAGI is the inflammation of the accessory male glands that notoriously exerts a negative influence on male fertility. The diagnosis is integrated by clinical, laboratory and ultrasound evaluation. In particular, the ultrasound criteria were published in 1999. The aim of this study was to analyse the sensitivity and sp...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2010.01132.x

    authors: La Vignera S,Calogero AE,Condorelli RA,Vicari LO,Catanuso M,D'Agata R,Vicari E

    更新日期:2012-05-01 00:00:00

  • Glutathione S-transferase M1 and T1 polymorphisms in Turkish patients with varicocele.

    abstract::Several studies have shown that high oxidative stress levels are associated with varicocele. The GST (glutathione S-transferase) family of genes is critical in the protection of cells from oxidative stress because they utilise as substrates a wide variety of products of oxidative stress. The objective of this study wa...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2010.01103.x

    authors: Acar H,Kılınç M,Guven S,Inan Z

    更新日期:2012-02-01 00:00:00

  • Cryotherapy alleviates symptoms in chronic prostatitis/chronic pelvic pain syndrome: The first results.

    abstract::Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is an intractable disease. This study aimed to assess the efficacy of cryotherapy in the therapy of CP/CPPS. One hundred and seventy-two patients with CP/CPPS were randomised to receive cryotherapy or sham cryotherapy. The follow-up assessments were done at we...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13920

    authors: Peng X,Gao H,Wang J

    更新日期:2020-12-24 00:00:00

  • Pentoxifylline increases sperm penetration into zona-free hamster oocytes without increasing the acrosome reaction.

    abstract::Several drugs have been used to stimulate human sperm motility, including 3-deoxy-adenosine, caffeine, and pentoxifylline. Pentoxifylline is an inhibitor of the phosphodiesterase and may stimulate sperm motility by increasing the intracellular levels of cAMP. In this study we have evaluated the effect of pentoxifyllin...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1993.tb02743.x

    authors: Morales P,Llanos M,Yovich JL,Cummins JM,Vigil P

    更新日期:1993-11-01 00:00:00

  • Secretory proteins of human seminal vesicles and their relationship to lipids and sugars.

    abstract::Proteins secreted by human seminal vesicles are strongly positively charged. Cellulose acetate electrophoresis show how the presence of two protein bands of vesicular origin (N3 and N4). When studied on SDS-PAGE there are three main bands of molecular weight 67, 45 and 40 kDa, respectively. These proteins may be separ...

    journal_title:Andrologia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1439-0272.1990.tb02085.x

    authors: Montagnon D,Valtat B,Vignon F,Koll-Back MH

    更新日期:1990-01-01 00:00:00

  • Primary seminal vesicle adenocarcinoma: A case report of rare entity and discussion of its differential diagnosis using immunohistochemical approach for the core biopsy specimen.

    abstract::Primary seminal vesicle adenocarcinoma is a rare malignancy of the male genito-urinary system with only a few confirmed reported cases. Initial tissue diagnostic modality is often a core biopsy specimen. Here, we report this rare entity in a 50-year-old male, highlighting the histomorphological and immunohistochemical...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13512

    authors: Bhardwaj N,Rastogi P,Attri VS,Bora GS,Gorsi U

    更新日期:2020-04-01 00:00:00

  • A new approach for cryoprotectant-free freezing of goat epididymal spermatozoa.

    abstract::A cryoprotectant-free method was successfully used for rapid freezing of goat epididymal spermatozoa. Lowering sperm volume may increase the temperature exchange rate and improve the freezing output of spermatozoa. The aim of this study was to compare two different packaging types [0.25 ml French straws (FS) and 96-we...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12384

    authors: Katanbafzadeh H,Barati F,Tabandeh M

    更新日期:2015-12-01 00:00:00