Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Tachdjian, G.

doi:10.1093/humrep/deg070

Cited by 41 publications

(18 citation statements)

References 56 publications

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“…In the study, this gonosomal anomaly was detected in every sixth patient with aspermia and azoospermia but only in every twelfth patient with OAT. This matches the data from other studies [1,2,21] that deal severity of spermatogenesis failure with given karyotype anomaly. Two cases of Y chromosome deletion were observed among patients suffering from AZ and OAT.…”

supporting

confidence: 91%

Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

Huleyuk¹,

Zastavna²,

Tyrkus³

et al. 2010

Cytol. Genet.

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Introduction. Infertility is the problem of almost 15 % of married couples. Half of the cases is caused by a «male factor». Commonly, idiopathic oligo and azoospermia are diagnosed in these cases. Genetic reasons of spermatogenesis failure, such as numerical or structural chromosome anomalies and gene mutations that are responsible for fertility often depend on ethnic background of patients [1][2][3][4][5][6][7][8][9][10].Karyotype abnormalities are observed in 4.6 % of men with oligospermia and in 13.7 % patients with azoospermia. Structural chromosomal anom alies are detected in 5.1 % of infertile men, besides, autosomal translocations are the most common in men with oligospermia and changes in gonosomes (sex chromosomes) are more characteristic for persons with azoospermia [10].The genes located on the Y chromosome play an essential role in the control and regulation of spermatogenesis. Microdeletions of AZF locus are one of the most widespread genetic causes of infer tility in men with severe spermatogenetic failure: microdeletions in AZF are diagnosed in 5-11 % individuals with azoospermia, while in oligosper mia -in 2-8 % of cases [4,7,9]. In 12 % of infer tile men mutations of CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene are detected. Furthermore, in these cases uni or bilat eral congenital absence of the vas deferens (CAVD) can be revealed [11].Consequently, previously described genetic factors have the leading role in etiology dysfunc tions of male reproductive system. That is why the purpose of the study was to set the frequency and the spectrum of the chromosomal anomalies, microdeletions of AZF region of Y chromosome and CFTR gene mutations among infertile men from Ukraine.Materials and methods. Eighty idiopathically infertile males, selected out of 260 infertile men, attending the Prycarpatian Center of Human Reproductions, were included in the study. The diagnosed cases of anatomic defects, infectious dis eases, endocrine, immunological infertility were excluded from the studied group. The age of these individuals ranged from 25 to 43 years. An experi enced urologist carried out a detailed anamnesis and clinical examination of every patient. Sperm analysis was performed at least twice at appropriate interval. Based on spermatological analysis results, infertile were subdivided into three groups: 36 (45 %) patients with aspermia (AS), 19 (24 %) patients

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supporting

confidence: 91%

Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

Huleyuk¹,

Zastavna²,

Tyrkus³

et al. 2010

Cytol. Genet.

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“…However, we were not successful in 12 out 12 KS adolescents aged 15-20 years (6). and to date at least eight live born children have been reported (48,49,50,51,52). During recent years, cryopreservation of spermatogonial stem cells (SSCs) has been offered on an experimental basis to immature boys prior to chemo-or radiotherapy with the purpose of being (hypothetically) able to reintroduce the SSCs in the patient's own testis by SSC transplantation.…”

Section: Cryopreservation Of Ejaculated Spermatozoamentioning

confidence: 99%

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Aksglæde

Juul

2013

European Journal of Endocrinology

170

114

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Klinefelter syndrome, 47,XXY (KS), is the most frequent sex chromosome aberration in males, affecting 1 in 660 newborn boys. The syndrome is characterized by testicular destruction with extensive fibrosis and hyalinization of the seminiferous tubules resulting in small testes, hypergonadotropic hypogonadism, and azoospermia in the majority of cases. Until recently, infertility was considered an untreatable condition in KS. However, with the development of new advanced assisted reproductive techniques such as testicular sperm extraction (TESE) combined with ICSI it seems that KS patients should no longer be labelled as infertile. Especially, microdissection (micro)-TESE has proved to be an advantageous procedure for the identification of testicular spermatozoa in KS. The aim of this review was to describe current knowledge on the testicular changes occurring in KS, the associated changes in reproductive hormones and spermatogenesis, and the existing possibilities of biological fatherhood in 47,XXY patients. European Journal of Endocrinology 168 R67-R76

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“…Surgical sperm retrieval has revealed spermatozoa in up to half of patients with non-mosaic KS referred to assisted reproduction centres (Tournaye et al, 1997;Palermo et al, 1999;Friedler et al, 2001;Vernaeve et al, 2004). To date 54 normal children have been born from 122 men with KS by ICSI with testicular (48 children, 118 patients) or ejaculated spermatozoa (six children from four patients) Tournaye et al, 1996Tournaye et al, , 1997Bourne et al, 1997;Hinney et al, 1997;Palermo et al, 1998;Reubinoff et al, 1998;Nodar et al, 1999;Ron-El et al, 1999, 2000aKitamura et al, 2000;Levron et al, 2000;Cruger et al, 2001;Friedler et al, 2001;Greco et al, 2001;Poulakis et al, 2001;Rosenlund et al, 2002;Yamamoto et al, 2002;Kahraman et al, 2003;Staessen et al, 2003;Tachdjian et al, 2003;Ulug et al, 2003). Three cases of chromosomally abnormal embryos (47,XXY) resulting in abortion have been reported (Reubinoff et al, 1998;Ron-El et al, 2000b;Friedler et al, 2001), and other studies reported a high number of aneuploidy embryos discovered by preimplantation genetic diagnosis (Bielanska et al, 2000;Kahraman et al, 2003;Staessen et al, 2003).…”

Section: Klinefelter Syndromementioning

confidence: 99%

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

Ferlin¹,

Garolla²

2005

Cytogenet Genome Res

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The most common type of karyotype abnormality detected in infertile subjects is represented by Klinefelter’s syndrome, and the most frequent non-chromosomal alteration is represented by Y chromosome long arm microdeletions. Here we report our experience and a review of the literature on sperm sex chromosome aneuploidies in these two conditions. Non mosaic 47,XXY Klinefelter patients (12 subjects) show a significantly lower percentage of normal Y-bearing sperm and slightly higher percentage of normal X-bearing sperm. Consistent with the hypothesis that 47,XXY germ cells may undergo and complete meiosis, aneuploidy rate for XX- and XY-disomies is also increased with respect to controls, whereas the percentage of YY-disomies is normal. Aneuploidy rates in men with mosaic 47,XXY/46,XY (11 subjects) are lower than those observed in men with non-mosaic Klinefelter’s syndrome, and only the frequency of XY-disomic sperm is significantly higher with respect to controls. Although the great majority of children born by intracytoplasmic sperm injection from Klinefelter subjects are chromosomally normal, the risk of producing offspring with chromosome aneuploidies is significant. Men with Y chromosome microdeletions (14 subjects) showed a reduction of normal Y-bearing sperm, and an increase in nullisomic and XY-disomic sperm, suggesting an instability of the deleted Y chromosome causing its loss in germ cells, and meiotic alterations leading to XY non-disjunction. Intracytoplasmic injection of sperm from Y-deleted men will therefore transmit the deletion to male children, and therefore the spermatogenic impairment, but raises also concerns of generating 45,X and 47,XXY embryos.

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Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

Cited by 41 publications

References 56 publications

Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

Complex cytogenetic and molecular-genetic analysis of males with spermatogenesis failure

Therapy of endocrine disease: Testicular function and fertility in men with Klinefelter syndrome: a review

Chromosome abnormalities in sperm of individuals with constitutional sex chromosomal abnormalities

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