Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism.

Abstract:

:The sex chromosome-discordant chimerism 46,XX/46,XY is rarely found in humans with a phenotypically normal appearance, and this lack of phenotypic changes and the rarity of chimerism make it difficult to identify its exact incidence. Here, we report a case of this sex chromosome-discordant chimerism diagnosed by cytogenic and molecular analyses of peripheral blood in a phenotypically normal male who was referred to our facility for infertility. Based on the karyotype, fluorescence in situ hybridisation (FISH) and short tandem repeat (STR) analyses, the type of this chimerism was determined to be tetragametic presenting four alleles at two loci on chromosomes 16 and 21.

journal_name

Andrologia

journal_title

Andrologia

authors

Choi EJ,Kim SR,Kim YJ,Kang SM,Kim GY,Kim JH,Lee YJ

doi

10.1111/and.13215

subject

Has Abstract

pub_date

2019-04-01 00:00:00

pages

e13215

issue

3

eissn

0303-4569

issn

1439-0272

journal_volume

51

pub_type

  • Comparative study of functional and biochemical parameters in frozen bovine sperm.

    abstract::In order to correlate functional and biochemical parameters, frozen bovine sperm samples presenting diverse motility were studied. Specimens collected from four bulls (A, B, C and D) were graded according to motile spermatozoa percentage and vigour, regarding the sample from bull A as highest motility, those from bull...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1997.tb03146.x

    authors: Beorlegui N,Cetica P,Trinchero G,Córdoba M,Beconi M

    更新日期:1997-01-01 00:00:00

  • Profertility effects of Shilajit on cadmium-induced infertility in male mice.

    abstract::Shilajit is claimed as a Vajikarak (aphrodisiac) and used for the treatment of male infertility by traditional healers of the Indian subcontinent. Therefore, the present investigation was designed to assess the effectiveness of Shilajit for treatment of male infertility resulting from exposure to perilous chemicals. E...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13064

    authors: Mishra RK,Jain A,Singh SK

    更新日期:2018-10-01 00:00:00

  • Preparation and observation methods can produce misleading artefacts in human sperm ultrastructural morphology.

    abstract::The aim of this study was to evaluate the production of artefacts during preparation and observation of human sperm for ultrastructural morphology and analyse the possible reasons of causing these artefacts. Under the scanning electron microscopy, damaged sperm heads (crack or/and rupture), necks (head-neck or head-mi...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13043

    authors: Zhu WJ

    更新日期:2018-09-01 00:00:00

  • Seminal parameters of chronic male genital inflammation are associated with disturbed sperm DNA integrity.

    abstract::Definition of chronic male genital tract inflammation and its impact on male infertility is still a matter of debate. In particular, DNA integrity has been reported to be disturbed in subfertile men. Thus, the aim of this study was to investigate an association of DNA integrity to altered standard semen parameters as ...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12408

    authors: Haidl F,Haidl G,Oltermann I,Allam JP

    更新日期:2015-05-01 00:00:00

  • Anatomical endoscopic enucleation of the prostate: The next gold standard? Yes!

    abstract::Anatomical endoscopic enucleation of the prostate (AEEP) differs from other surgical techniques for benign prostatic obstruction (BPO) in that it removes the entire benign prostatic hyperplasia (BPH) component of the prostate. We summarise the main advantages of AEEP compared to other surgical techniques for BPO. Thes...

    journal_title:Andrologia

    pub_type: 杂志文章,评审

    doi:10.1111/and.13643

    authors: Aho T,Armitage J,Kastner C

    更新日期:2020-09-01 00:00:00

  • Microsurgical subinguinal cremaster muscle release for chronic orchialgia secondary to hyperactive cremaster muscle reflex in adults.

    abstract::A careful history and evaluation of men with chronic orchialgia elucidates the aetiology in some men to be a hyperactive cremaster muscle reflex with testicular retraction as the cause. The objective is to evaluate outcomes in men who underwent microsurgical subinguinal cremaster muscle release (MSCMR) with a retrospe...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13493

    authors: Kavoussi PK

    更新日期:2020-02-01 00:00:00

  • Leukocytospermia in male infertility patients in China.

    abstract::Recent studies have revealed a high prevalence of leukocytospermia (> 1 x 10(6) white blood cells ml-1 semen) in male infertility patients in the USA and certain European countries, and have implicated white blood cells as a cause of infertility. Since leukocytospermia may often be attributed to male genital-tract inf...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1994.tb00783.x

    authors: Wang AW,Politch J,Anderson D

    更新日期:1994-05-01 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

  • Effect of low androgen levels on the sulphur dioxide signalling pathway in rat penile corpus cavernosum.

    abstract::The aim of this study was to investigate the relationship between sulphur dioxide (SO2 ) signalling pathway and the changes in erectile function under low androgen levels. Thirty-six healthy male Sprague Dawley (SD) rats aged eight weeks were randomly divided into androgen replacement group, castration group and sham ...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13167

    authors: Li X,Jiang J,Xia J,Jiang R

    更新日期:2019-02-01 00:00:00

  • mTOR expression in human testicular seminoma.

    abstract::The mammalian target of rapamycin (TOR) has been implicated in the control of different stressors, growth factors, nutrients and hormones, participating in the control of key cellular functions. Controlling this many pathways poses mTOR signalling as a potential new target in new treatment strategies for multiple canc...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12504

    authors: Yaba A,Bozkurt ER,Demir N

    更新日期:2016-08-01 00:00:00

  • Treatment with melatonin and selenium attenuates docetaxel-induced apoptosis and oxidative injury in kidney and testes of mice.

    abstract::Docetaxel (DTX) has been used in cancer treatments for several decades, but it results in many adverse apoptotic effects through excessive production of reactive oxygen species (ROS) in some tissue including the kidney and testes. We aimed to investigate potential modulatory roles of melatonin (MEL) and selenium (Se) ...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13320

    authors: Baş E,Nazıroğlu M

    更新日期:2019-09-01 00:00:00

  • Antioxidant enzyme activity and MDA level in the rat testis following chronic administration of ghrelin.

    abstract::Ghrelin has recently been reported to exert beneficial effects on various oxidative stresses as a result of its antioxidant properties. Therefore, we designed this study to explore the probable antioxidative effects of this peptide in the testis. Twenty-eight male adult Wistar rats were divided into equal control and ...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2009.00932.x

    authors: Kheradmand A,Alirezaei M,Asadian P,Rafiei Alavi E,Joorabi S

    更新日期:2009-12-01 00:00:00

  • Purification and characterization of sperm-coating antigen, identified by a monoclonal antibody.

    abstract::A procedure was designed for purification of a human seminal plasma-specific antigen (HSP-antigen) identified by a monoclonal antibody produced in this laboratory (mAb 4E6). Pooled human seminal plasma was fractionated by consecutively applied methods: affinity chromatography on Lentil lectin sepharose, gel chromatogr...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1993.tb02724.x

    authors: Dimitrova D,Kehayov I,Kyurkchiev S

    更新日期:1993-09-01 00:00:00

  • Spatiotemporal expression patterns of natriuretic peptides in rat testis and epididymis during postnatal development.

    abstract::Natriuretic peptide (NP) family is composed of atrial, brain and C-type NP (NPPA, NPPB and NPPC). Here, we aimed to investigate NP expression in testis and epididymis during postnatal development. NPPA expression was observed in gonocytes at prepubertal period but in only spermatocytes in pachytene and leptotene/zygot...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13387

    authors: Özbek M,Hitit M,Öztop M,Beyaz F,Ergün E,Ergün L

    更新日期:2019-11-01 00:00:00

  • Studies on the male antifertility agent gossypol acetic acid. VII. Effect of motility stimulated factors on the revival of human spermatozoal motility after gossypol treatment in vitro.

    abstract::Human spermatozoa were incubated with gossypol acetic acid (100 micrograms/1 X 10(6) spermatozoa/ml) at 37 degrees C for 30 min. The drug treatment inhibited the spermatozoal motility significantly. Washing of the spermatozoa, after gossypol treatment, did not effect their motility. A partial revival in the motility o...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1986.tb01797.x

    authors: Kalla NR,Gadru N,Foo TW

    更新日期:1986-07-01 00:00:00

  • Intra-uterine insemination with prepared sperm vs. unprepared first split ejaculates. A randomized study.

    abstract::In this randomized prospective study, we determined the conception rate following intra-uterine insemination with washed and prepared sperm, or with the first portion of a split ejaculate, in couples with longstanding male (n = 27, 70 treatment cycles) or cervical infertility (n = 14, 29 treatment cycles). Folliculoge...

    journal_title:Andrologia

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1111/j.1439-0272.1992.tb02626.x

    authors: Goldenberg M,Rabinovici J,Bider D,Lunenfeld B,Blankstein J,Weissenberg R

    更新日期:1992-05-01 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

  • Evaluation of serum level of Osteocalcin hormone in male infertility.

    abstract::The suggested concept of "bone as an endocrine organ" had shed the light on the role of osteocalcin, an osteoblast secreted hormone, in regulation of testosterone production. This study aimed to assess the association between the active undercarboxylated form of osteocalcin (ucOC) and semen parameters and hormonal lev...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12755

    authors: El-Kamshoushi AAM,Hassan EM,Hassaan PS

    更新日期:2017-11-01 00:00:00

  • New aspects in the treatment of priapism.

    abstract::Recent advances in the understanding of erectile physiology have improved the prompt diagnosis and treatment of priapism. During initial assessment, the physician must distinguish between veno-occlusive low flow (ischemic) and arterial high flow (nonischemic) in order to choose the correct treatment option for each ty...

    journal_title:Andrologia

    pub_type: 杂志文章,评审

    doi:10.1111/j.1439-0272.1999.tb01451.x

    authors: Martínez Portillo FJ,Jünemann KP

    更新日期:1999-01-01 00:00:00

  • Oral treatment of oligozoospermia with testosterone-undecanoate: results of a double-blind-placebo-controlled trial.

    abstract::30 patients with normogonadotrophic oligozoospermia from 1-20 mill/ml (group A) and 30 men with a sperm density from 210-40,0 mill/ml (group B) from the andrologic laboratory of the University Clinic for Gynecology and Obstetrics, Graz, Austria were treated with a 120 mg testosteron-undecanoate per os for 100 days. On...

    journal_title:Andrologia

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:

    authors: Pusch HH

    更新日期:1989-01-01 00:00:00

  • Genetic analysis of HOXA11 gene in Chinese patients with cryptorchidism.

    abstract::Cryptorchidism is the most common congenital anomaly in male children. Its aetiology remains unknown in the majority of cases. Because HOXA11 plays a vital role in regulating testicular descent, genetic variants in HOXA11 genes may contribute to the risk of cryptorchidism. In this study, mutation analysis was performe...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12790

    authors: Lu P,Wang Y,Wang F,Huang J,Zeng Y,He D,Huang H,Cheng Z

    更新日期:2018-02-01 00:00:00

  • Azoospermia in a renal transplant recipient during sirolimus (rapamycin) treatment.

    abstract::Sirolimus is used as a powerful immunosuppressant drug in patients after organ transplantation. It was shown to block spermatogenesis by interrupting the stem cell factor/c-kit system. Oligozoospermia was shown in single patients. In addition, a decrease of testosterone and an increase of gonadotropin levels were obse...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.2007.00787.x

    authors: Skrzypek J,Krause W

    更新日期:2007-10-01 00:00:00

  • Carnitine in seminal fluid as parameter for the epididymal function.

    abstract::Carnitine represents the secretion which is added to human seminal fluid by the epididymis. More than 94% of the free carnitine originates from the epididymis. The frequency distribution of carnitine concentration is investigated with patients showing a normal spermiogram and with those suffering from azoospermia. Cor...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1978.tb03017.x

    authors: Wetterauer U,Heite HJ

    更新日期:1978-05-01 00:00:00

  • Testicular sperm extraction after laparoscopic orchiectomy for bilateral postpubertal intra-abdominal cryptorchidism: What chance of sperm retrieval?

    abstract::Infertility occurs in up to 54% of men with bilateral undescended testes. Orchiectomy is considered the best therapeutic approach, especially when cryptorchidism is diagnosed in adulthood, due to a high risk of malignancy. A 33-year-old man was referred with a clinical presentation of empty scrotum and an ultrasonogra...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.12936

    authors: Cito G,Della Camera PA,Degli Innocenti S,Coccia ME,Nesi G,Cocci A,Morselli S,Minervini A,Carini M,Serni M,Gacci M,Natali A

    更新日期:2018-03-01 00:00:00

  • Positive effect of progesterone on motility and velocity of fresh, vitrified without permeable cryoprotectants and frozen with permeable cryoprotectants human spermatozoa.

    abstract::Steroid hormone progesterone has been found to play an important role in the migration of spermatozoa through the reproductive tract, as well as to induce hyperactive motility and increase sperm velocity. The aim of this study was to examine whether progesterone could induce beneficial effects in vitrified and slow-fr...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13133

    authors: Saymé N,Dite L,Krebs T,Kljajić M,Maas DHA

    更新日期:2018-12-01 00:00:00

  • The presence of progressive motility sustaining factor (PMSF) in human epididymis.

    abstract::Progressive Motility Sustaining Factor (PMSF) was isolated from human epididymides. PMSF could significantly improve progressive motility of oligozoospermic as well as asthenozoospermic semen. PMSF was found to increase cyclic AMP accumulation by the human spermatozoa indicating its possible mode of action. ...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1981.tb00021.x

    authors: Sheth AR,Gunjikar AN,Shah GV

    更新日期:1981-03-01 00:00:00

  • Association between leptin, obesity, hormonal interplay and male infertility.

    abstract::Male infertility is a major health problem worldwide. We investigated a possible association between leptin, obesity, hormonal interplay and male infertility. This cross-sectional study of 313 males (178 infertile and 135 fertile) was carried out in 2017. The subjects were categorised by body mass index (BMI) and body...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13147

    authors: Amjad S,Baig M,Zahid N,Tariq S,Rehman R

    更新日期:2019-02-01 00:00:00

  • Leydig cell function and morphology in the rat testis after exposure to heat.

    abstract::Leydig cell function, as judged from testosterone concentrations in plasma and in testicular tissue after LH stimulation, was tested in adult rat testes 4 days after brief exposure of the scrotum to 33 degrees and 43 degrees C, respectively. There was no significant difference in basal plasma testosterone concentratio...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1980.tb00568.x

    authors: Damber JE,Bergh A,Janson PO

    更新日期:1980-01-01 00:00:00

  • Lack of immunization after intraperitoneal insemination of spermatozoa.

    abstract::Twenty infertile patients with normal tubal patency were inseminated intraperitoneally (11 once, seven twice, and two three times) with spermatozoa (mean 14 x 10(6), range 0.6-48 x 10(6)) prepared by the standard swim-up technique. The occurrence of immunization to spermatozoa was looked for by the Gelatin Agglutinati...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/j.1439-0272.1993.tb02673.x

    authors: Ragni G,Lenzi A,Gandini L,Cristiani C,Lombroso GC,Olivares MD,Wyssling H,Dondero F,Crosignani PG

    更新日期:1993-01-01 00:00:00

  • Protective effect of rutin on mercuric chloride-induced reproductive damage in male rats.

    abstract::This study investigated the effects of rutin against reproductive damage caused by toxic mercury in male rats. Thirty-five Sprague Dawley rats were used. Control group was injected with saline for 7 days. The rutin-100 group received 100 mg/kg/b.w. rutin for 7 days. Mercuric chloride (HgCl2 ) group received 1.23 mg/kg...

    journal_title:Andrologia

    pub_type: 杂志文章

    doi:10.1111/and.13524

    authors: Kandemir FM,Caglayan C,Aksu EH,Yildirim S,Kucukler S,Gur C,Eser G

    更新日期:2020-04-01 00:00:00