Cytogenetic analysis and endocrine profile in patients with nonobstructive azoospermia or severe oligozoospermia

Publication date: Available online 5 September 2018Source: African Journal of UrologyAuthor(s): M.H. Ali, M. Soliman, A. Metwally, A. GhobeishAbstractObjectiveTo study the prevalence of chromosomal anomalies in infertile males with severe oligozoospermia or non obstructive azospermia and its correlation with clinical and endocrine profile.Patients and methodsConsecutive 30 male subjects (mean age 35.5 ± 7.1 years) with primary infertility attending at the infertility clinic, Urology department, Suez Canal University Hospital, Egypt were enrolled in the study. These patients had severe oligozoospermia (n = 9) or non obstructive azospermia (n = 21). Clinically testicular volume, scrotal Doppler ultrasound examination and endocrine evaluation (serum FSH, testosterone and prolactin) were determined. Cytogenetic analysis was performed by using the GTG (G-banded using trypsin and Giemsa) banding technique.ResultsNine patients (30%) had chromosomal abnormality. Patients with Klinefelter Syndrome and de la Chapelle male syndrome represented 26.7% (n = 8) and 3.3% (n = 1) respectively. All patients diagnosed as Klinefelter group were azoospermic, while 57.1% of normal karyotyping were azoospermic and 42.9% were severe oligozoospermic (p = 0.029). Klinefelter group had significantly lower mean testosterone level than normal karyotyping group (p = 0.016). Also, Klinefelter group had significantly higher mean FSH and LH levels than normal karyotyping ...
Source: African Journal of Urology - Category: Urology & Nephrology Source Type: research

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Abstract The aim of this study was to evaluate the predictive value of factors in infertile male patients to retrieve sperm from their testicles before they undergo testicular sperm extraction (TESE). In total, 64 males were enrolled in this study. Infertility was identified as obstructive azoospermia (OA); non-obstructive azoospermia (NOA); Klinefelter syndrome (KS); and cryptozoospermia (Crypt). Age, body mass index and concomitant conditions were noted. Testicular volumes, serum levels of Follicle-Stimulating Hormone (FSH), Luteinizing Hormone (LH), testosterone (T) and prolactin were investigated. Sperm retrie...
Source: Systems Biology in Reproductive Medicine - Category: Reproduction Medicine Authors: Tags: Syst Biol Reprod Med Source Type: research
Nonobstructive azoospermia (NOA) remains the most severe form of intrinsic testicular failure. While some genetic etiologies have been reported (Y chromosome microdeletions, Klinefelter's syndrome, XXY males, whole chromosome translocations), most genetic causes of testicular failure remain poorly defined. Even when we can identify the genetic basis for NOA, we still lack effective targeted therapy. As a result, the correction of genetic infertility currently remains a treatment of scientific imagination.
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Fertile battle Source Type: research
Abstract The aim of this study was to establish the prevalence of chromosomal abnormalities and microdeletions on the Y chromosome in Tunisian infertile men with severe oligozoospermia or non-obstructive azoospermia. In cases of azoospermia, we aimed also to correlate histological results after negative testicular sperm extraction with the type of Y chromosome microdeletion. 84 infertile patients and 52 controls were screened for karyotypic abnormalities using G-banding and Yq chromosome microdeletions using multiplex PCR. 7 infertile males (8.3%) carried chromosomal abnormalities and 8 (9.5%) presented Y chromoso...
Source: Annales de Biologie Clinique - Category: Biochemistry Authors: Tags: Ann Biol Clin (Paris) Source Type: research
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis. PMID: 30372699 [PubMed - as supplied by publisher]
Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - Category: Genetics & Stem Cells Authors: Tags: Sex Dev Source Type: research
In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research
The objective of this study was to evaluate the prognostic factors for sperm retrieval and determine if Y chromosome deletion could lead to deleterious effect.
Source: The Journal of Urology - Category: Urology & Nephrology Authors: Tags: Infertility: Epidemiology & Evaluation II Source Type: research
To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients wa...
Source: Cytogenetic and Genome Research - Category: Genetics & Stem Cells Source Type: research
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1:650 newborn males), defined by 47,XXY karyotype. The classical phenotype is that of a tall male with relatively long legs, small, firm testes and gynecomastia. Azoospermia and infertility are almost inevitably present, but may be overcome by TESE and ICSI. Nevertheless, a broad spectrum of phenotypes has been described and>70% of the actually existing KS men may remain undiagnosed throughout their lifespan. Accordingly, hypogonadism is usually not evident until early adulthood and progresses with ageing.
Source: Metabolism - Clinical and Experimental - Category: Biomedical Science Authors: Source Type: research
This study was performed to establish a novel method for the detection of genetic causes of infertility in males and also to investigate the prevalence, extent and position of Y chromosome microdeletions in Iranian infertile men. We developed a newly designed panel of fluorescent multiplex‐PCR method to amplify 20 markers (15 sequence‐tagged sites (STSs) markers which are placed in the Y chromosome AZF region, 2 short tandem repeats (STRs) and 3 segmental duplications (SDs)). This multifunctional method is for the simultaneous detection of Y chromosome microdeletions and KS. Among 149 studied infertile men, one was det...
Source: Andrologia - Category: Urology & Nephrology Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract IntroductionTesticular microdissection sperm extraction (MD‐TESE) combined with intracytoplasmic sperm injection (ICSI) has made biological fatherhood possible for many men with the most severe form of male infertility, non‐obstructive azoospermia. MD‐TESE was introduced in Turku in 2008, and by 2015, 100 Finnish men with non‐obstructive azoospermia have been operated on. Material and methodsThe average age of the men was 33 years at the time of surgery. Forty‐eight had a needle biopsy previously and 56% had a testicular size
Source: Acta Obstetricia et Gynecologica Scandinavica - Category: OBGYN Authors: Tags: Original Research Article Source Type: research
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