Biomedical subjects

R Frydman

Publications and source records attributed to R Frydman.

At least 19 recordsLinked to original sources

PubMed2006

A new method for toxicity assays on human and mouse fetal testis.

Exposure to environmental pollutants (EP) is associated with a wide range of toxic effects, in particular in testis development. Uranium is a potential pollutant of nuclear industry and over the last few years, its environmental concentrations have increased. In animals, the current procedures for evaluating the potential developmental toxicity of uranium are based on in vivo studies. These methods do not allow to know the direct effects on testicular cells and are obviously excluded for human experiments. Consequently, we have developed an in vitro culture system of the whole testis. In the present study we characterized and validated this organ culture system in both mouse fetal testes and human fetal testes recovered during the first trimester (6-12 weeks) of gestation. We compared the histological aspect, the number of germ cells and the testosterone production, before and after culture. Testicular architecture and intercellular communications were preserved, and organ culture appears as a powerful method for studying the early development of testicular gametogenesis and steroidogenesis in both species. Thus by using this method we will be able to investigate the effects of uranium on mouse and human developing testis. The mouse model will allow us to determine the dose range of interest without restriction of material.

Animals↗

PubMed2006

Multiple displacement amplification improves PGD for fragile X syndrome.

We report an improvement in the PGD test for fragile X syndrome (FXS). Recently, multiple displacement amplification (MDA) has been reported to yield large amounts of DNA from single cells. Taking into account this technique, we developed a new PGD test for FXS, enabling combined analysis of linked polymorphic markers with the study of the non-expanded CGG repeat. Single cell amplification efficiency was first assessed on single lymphocytes. Amplification rate of the different markers ranged from 85 to 95% with an allele drop-out (ADO) rate comprised between 7 and 34%. Using this test, eight PGD cycles were carried out for six couples, and 37 embryos were analysed after preliminary MDA. Amplification rate was increased by this technique from 41 to 66% so that embryos with no results were rarer (14 versus 45% without MDA). Reliability of the test was considerably improved by combining direct with indirect genetic analysis. Furthermore, in cases of fully expanded alleles too large to be amplified by PCR, this test gives an internal amplification control. Embryonic transfers were carried out in all but one PGD cycles. One biochemical and one clinical pregnancy resulted, and a healthy child was born. This single diagnosis procedure could be suitable to most patients carrying FXS.

DNA Mutational Analysis↗

PubMed2006

Prepubic and thigh abscess after successive placement of two suburethral slings.

We present a case of prepubic and thigh abscess after the placement of two types of suburethral slings in a 65-year-old woman suffering from stress urinary incontinence (SUI). The first surgical procedure (prepubic tension-free vaginal tape) was unsuccessful. Thus, 2 months later, we placed an ObTape sling by transobturator approach. This second procedure was successful. Seven months later, the patient presented with vaginal erosion of the sling with no inflammatory signs. The suburethral portion of the sling was immediately removed and the vagina was sutured. Nine months later, a prepubic abscess occurred and required removal of the prepubic sling, drain placement, and antibiotic therapy. Unfortunately, 9 months later, a thigh abscess occurred. Magnetic resonance imaging (MRI) allowed precise diagnosis and anatomic localization of the thigh abscess. Surgery consisted of opening and draining the abscess and removing the transobturator sling. At 6 months follow-up, no persistent inflammatory sign was observed on MRI, and SUI did not recur.

Abscess↗

PubMed2006

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.

BACKGROUND: Premature ovarian failure (POF) is defined as amenorrhoea for more than 6 months, occurring before the age of 40, with an FSH serum level higher than 40 mIU/ml. Cytogenetically visible rearrangements of the X chromosome are associated with POF. Our hypothesis was that cryptic Xq chromosomal rearrangements could be an important etiological contributor of POF. METHODS: Ninety POF women were recruited and compared to 20 control women. Peripheral blood samples were collected and metaphase chromosomes were prepared using standard cytogenetic methods. To detect Xq chromosomal micro-rearrangements, fluorescence in situ hybridization (FISH) analysis was performed using a selection of 30 bacterial artificial chromosome (BAC) and P1 artificial chromosome clones, spanning Xq13-q27. We further localized the translocation breakpoints by FISH with additional BAC clones. RESULTS: Chromosomal abnormalities were identified in 8.8% of our 90 patients [one triple X, three large Xq deletions 46,X,del(X)(q22.3), 46,X,del(X)(q21.2) and 46,X,del(X)(q21.32), two balanced X;autosome translocations 46,X,t(X;1) (q21.1;q32) and 46,X,t(X;9)(q21.31;q21.2) and two Robertsonian translocations 45,XX,der(15;22)(q10;q10) and 45,XX,der(14;21)(q10;q10)]. The two Xq translocation breakpoints were among a cluster of repetitive elements without any known genes. FISH analysis did not reveal any Xq chromosomal micro-rearrangement. CONCLUSIONS: Karyotyping is definitely helpful in the evaluation of POF patients. No submicroscopic chromosomal rearrangements affecting Xq region were identified. Further analysis using DNA microarrays should help delineate Xq regions involved in POF.

Adult↗

PubMed2006

A randomized double-blind controlled study on the efficacy of laser zona pellucida thinning on live birth rates in cases of advanced female age.

BACKGROUND: It is conceivable that defective embryo hatching plays a part in the mechanisms involved in the decrease of embryo implantation rates with advancing age. In an effort to test this hypothesis, we tested the effectiveness of assisted hatching (AH) in women > or =37 years of age. METHODS: We prospectively studied 103 IVF-embryo transfer patients undergoing 103 embryo transfers. All of them were > or =37 years of age and had <3 previous IVF-embryo transfer attempts. Laser-AH of transferred embryos was either performed (AH group, n = 49) or not (control group, n = 54) according to randomized and double-blind methodology. Primary outcome was live birth rate. RESULTS: Population characteristics were comparable in AH and control groups as well as the mean number of embryos transferred (2.7 +/- 0.6 versus 2.7 +/- 0.6) and the prevalence of top quality embryos transferred (65 versus 59%, respectively). We failed to find any statistically significant difference between AH and control groups with regard to implantation (16.1 versus 16.7%, respectively) and live birth rates (22.4 versus 29.6%, respectively). CONCLUSION: The present study indicates that AH does not improve IVF-embryo transfer outcome in women aged > or =37 years.

Adult↗

PubMed2006

Vaginal mesh erosion after transvaginal repair of cystocele using Gynemesh or Gynemesh-Soft in 138 women: a comparative study.

The objective of this study was to compare mesh erosion after transvaginal repair of cystocele using Gynemesh or Gynemesh-Soft mesh. We retrospectively analyzed 138 consecutive cases of transvaginal repair of cystocele using synthetic mesh. The study endpoint was the pathological evidence of vaginal erosion. Multiple logistic regression was used to determine independent predictors of vaginal erosion. One hundred and thirty eight women (ages 30-83 years) with cystocele between October 1999 and October 2004, from a French University Hospital, participated in this study. Cystocele repair was performed in all patients according to the technique of tension-free polypropylene mesh. The median follow-up was 32.1 months (range 7.5-59.9) in the Gynemesh group and 7.1 months (range 1-21.9) in the Gynemesh-Soft group. Vaginal erosion was reported in 27 (20%) of the patients. Anatomically, the success rate was 95% (131/138). There was no statistically significant difference between the Gynemesh and the Gynemesh-Soft meshes [the rate of vaginal erosion of the mesh was 16% (15/89) vs 24% (12/49), respectively, p=0.39]. Univariate analysis only identified age class as factor significantly associated with the probability of vaginal erosion. Multivariate analysis revealed that age class is an independent predictive factor of vaginal erosion (age > 70 years, odds ratio (OR) 3.6, 95% confidence interval (CI) 1.3-9.7, p=0.010). Furthermore cystocele stage > 2 (Baden and Walker classification) is a protective factor against vaginal erosion (OR 0.3, 95% CI 0.1-0.8, p=0.016). Thirteen symptomatic patients (13/27, 48%) necessitated a partial excision of the mesh, associated with a vaginal mucosal closure. Two patients (2/27, 7%) underwent a complete excision of the mesh. The incidence of de novo dyspareunia was 9% in patients with vaginal erosion and 11% in patient without mesh erosion (p=0.85). There was no occurrence of bladder or urethral erosion and no vaginal or pelvic infection. Isolated vaginal erosion of the mesh did not prove to be problematic. Gynemesh-Soft mesh does not decrease the incidence of vaginal erosion. Age > 70 years is an independent predictive factor of vaginal erosion. We recommend that mesh placement by vaginal route should be avoided by women with moderate cystocele. Where possible, total hysterectomy and vertical incision should also be avoided. Management of vaginal erosion is simple and is associated with a low rate of morbidity. However, patients should be informed that vaginal erosion of the mesh can occur. A multivariate analysis reveals that the incidence of vaginal erosion is not significantly different between Gynemesh and Gynemesh-Soft meshes. Other factors of erosion are analyzed.

Aged↗

PubMed2006

Determining chorionicity in twin gestations: three-dimensional (3D) multiplanar sonographic measurement of intra-amniotic membrane thickness.

OBJECTIVES: Measuring the thickness of the membranes to determine chorionicity in twins using two-dimensional (2D) ultrasound may provide uncertain results, given the possibility of measuring in an oblique view. We aimed to determine whether chorionicity can be assessed during the second and third trimesters by measuring the thickness of the membranes with three-dimensional (3D) multiplanar ultrasound, which ensures the measurement is perpendicular to the membranes, and to evaluate the reproducibility of the technique. METHODS: This was a prospective study of 84 twin pregnancies (30 monochorionic and 54 dichorionic) between 20 and 35 weeks of gestation. The dividing membranes between the fetuses were visualized with 2D and 3D transabdominal sonography and the thickness of the membranes was measured by the multiplanar technique. Intraobserver variability was assessed by comparing the measurements obtained in sagittal and axial views by the same observer. We examined the frequency distributions to determine the optimal cut-off point of the thickness of the membranes to predict chorionicity. Kappa index, intraclass correlation coefficients and 95% limits of agreement were calculated to evaluate the inter- and intraoperator variability. We also compared membrane-thickness measurement, during the second and third trimesters, using 2D and 3D ultrasound. RESULTS: In monochorionic and dichorionic pregnancies, respectively, the mean thickness was 1.42 (SD, 0.31) mm and 2.48 (SD, 0.47) mm. With 3D ultrasound, the intraclass correlation coefficient was 0.99 in all cases. The 95% limits of agreement were all within +/-0.2 mm. The best cut-off for membrane thickness for discriminating monochorionic from dichorionic twinning was 1.8 mm. Using this cut-off, there were one false-negative (sensitivity, 97%; 95% CI, 83-99%) and three false-positive (specificity, 94%; 95% CI, 85-99%) diagnoses of monochorionic twins. Kappa indices for intra- and interoperator variability were all above 90%, suggesting almost perfect agreement. Measurements with 2D sonography were less accurate (sensitivity and specificity, 83%). CONCLUSION: Prenatal assessment of dividing membranes using 3D multiplanar ultrasound is reproducible and may be a useful alternative method for determining chorionicity in twin pregnancies during the second and third trimesters.

Adult↗

PubMed2006

Prenatal diagnosis of a possible new middle interhemispheric variant of holoprosencephaly using sonographic and magnetic resonance imaging.

A peculiar subtype of holoprosencephaly, middle interhemispheric variant (MIH), which is characterized by a partial posterior interhemispheric fusion of the brain, has been described in children. We describe the features of a case of a possible new MIH at 26 weeks of gestation, diagnosed using prenatal sonography and magnetic resonance imaging and confirmed by postmortem examination. This malformation of the brain was associated with an unusual appearance of the corpus callosum and rare chromosomal abnormality: a 45X/46,XX/47,XX,+ 18 mosaicism.

Abortion, Induced↗

PubMed2006

[Sjögren syndrome in Obstetric and Gynecology: literature review].

Sjogren syndrome (SS) is an immune disease characterized by a progressive degeneration of exocrine glands. It leads to dryness of mucosa and conjunctivitis. Gynecologists and obstetricians may encounter this disease in women at any age, including during pregnancy. Knowledge of the main characteristics is required for early diagnosis and multidisciplinary program. In the event of secondary Sjögren syndrome occurring during pregnancy, treatment focuses on the associated disease, mainly systemic lupus erythematosus. In primary Sjögren syndrome, pregnancy does not appear to influence disease course. However, patients with both primary and secondary Sjögren syndrome must be monitored carefully. There is a risk of neonatal lupus and congenital atrioventricular bloc associated with high morbidity and mortality. These patients should benefit from multidisciplinary care in a hospital with a neonatal intensive care unit.

Androgens↗

PubMed2006

[Preimplantation genetic diagnosis (PGD): results from a Parisian center].

OBJECTIVE: To report the results of preimplantation genetic diagnosis (PGD) cycles performed in our unit from 2000 to 2004. Materials and methods. One hundred and seventy-one couples were enrolled in the PGD program over this period. The collected oocytes were inseminated by intracytoplasmic sperm injection (ICSI). The resulting embryos were biopsied on the third day of development and the genetic analysis was performed on the same day. Embryo transfers were carried out on the fourth day. RESULTS: The 416 stimulation cycles started yielded 280 oocyte pick-ups, 3506 oocytes retrieved, of which 2966 were suitable for ICSI. Among the 1982 embryos obtained, 1337 embryos were biopsied and genetic diagnosis was performed for 1083 (81%) of them. 381 embryos were transferred during the course of 189 transfer procedures. There were 51 clinical and 46 ongoing (35 single, 11 twin) pregnancies. In addition, 25 frozen embryo replacement cycles were initiated, leading to 6 embryo transfers and 1 ongoing pregnancy. A total of 58 unaffected children were born. CONCLUSION: PGD has gained a place among the choices offered to couples at risk of transmission of a serious and incurable genetic disease. It might be a realistic alternative to prenatal diagnosis for patients carrier of chromosomal rearrangements, single gene defects, X-linked disesases or mitochondrial DNA disorders.

Adult↗

PubMed2006

[Transvaginal cervico-isthmic cerclage using polypropylene tape: surgical procedure and pregnancy outcome: Fernandez's procedure].

OBJECTIVE: To assess the efficacy of performing transvaginal cervico-isthmic cerclage using synthetic tape in prevention of preterm labor in high-risk women. PATIENTS AND METHODS: A retrospective analysis of 24 transvaginal cerclages using polypropylene tape performed in women presenting with high risk of preterm delivery: prior histories of pregnancy losses in the second trimester, prior failure of Mac Donald's cerclage and/or absent portio vaginalis of the cervix. Cerclage was performed between 12 and 16 weeks of gestation. A polypropylene tape was placed at the cervicoisthmic junction by vaginal route. RESULTS: The median age of the patients in this series was 32.1 years (range 22-39 years). No intra-operative complication occurred. The median operating time was 34.9 minutes (+/-5.1) (range 30-45 min). Cesarean delivery was systematically performed in all patients since the cerclage was considered to be definitive. Mean gestational age and birth weight at delivery were respectively 37.1 weeks (+/-1.8) and 2850 g (+/-745). Preterm birth rate was 19% (4/21). Birth at less than 32 weeks occurred in only one patient (4%). In one case, the tape has been removed later because symptomatic vaginal erosion was noted. One neonatal death occurred following amniotic fluid infection at 34 weeks. At the present time, 3 women are at 22, 26 and 26 weeks of gestation with no preterm labor. CONCLUSION: Transvaginal cerclage using polypropylene tape may be considered as an effective and minimally invasive alternative to transabdominal cervico-isthmic cerclage in women presenting with high risk of preterm delivery.

Adult↗

PubMed2006

[Vaginal mesh extrusion after transvaginal repair of cystocele using a prosthetic mesh: Treatment and functional outcomes].

OBJECTIVE: To describe management of vaginal mesh erosion following transvaginal repair of acystocele by placement of a polypropylene mesh. MATERIALS AND METHOD: Retrospective analysis of 34 consecutive cases of vaginal mesh erosion following transvaginal repair of cystocele using synthetic mesh (Gynemesh or Gynemesh-Soft). We have analyzed the results of both medical and surgical management of this complication. Furthermore, we also assessed sexual and urinary morbidity in women with mesh erosion (n = 34) and in women who had undergone the same procedure but without mesh erosion (n = 111). RESULTS: Among the 34 patients with vaginal mesh erosion, 23 (68%) have undergone local therapy using Colposeptine (Chlorquinaldol + Promestriène). In 12 (52%) cases no modification of the surface of the erosion was observed. In 6 (26%) cases, a decrease of the surface of the mesh erosion was observed. In 5 (22%) cases the mesh erosion had completely disappeared, with a follow-up of 2 to 9 months. Nineteen symptomatic patients (19/32, 59%) required partial (n = 18) or complete (n = 1) excision of the mesh, associated with vaginal mucosal closure, under general anaesthesia. Duration of operation ranged from 15 to 40 minutes for partial excision of the mesh. This procedure was successful in 14 cases (77%). Four women required repeated resection of the mesh because of recurrence. The incidence of de novo dyspareunia was 12% in patients with vaginal mesh erosion, and 11% in patients without mesh erosion (p = 0.81). The incidence of urge urinary symptoms and voiding dysfunction symptoms was respectively 8% versus 9% (p = 0.95), and 8% versus 10% (p = 0.81) in the 2 groups. CONCLUSION: Management of vaginal mesh erosion is simple and is associated with a low rate of morbidity. However, patients should be informed that vaginal erosion of the mesh can occur.

Cystocele↗

PubMed2006

[Management of ten patients with complete septate uterus: hystersocopic section of and obstetrical outcome].

INTRODUCTION: Septate uterus is the principal müllerian anomaly, but complete septate uterus is uncommon and often associated with frequent obstetrical complications. Surgical section of the septum is however possible. MATERIAL AND METHOD: We report patients with a complete septum uterus operated in our department between 2002 and 2006. We performed a hysteroscopic section of the cervical, uterine and vaginal septum at discovery of the anomaly. The accuracy of imaging exams, frequency of associated malformations, past obstetrical events and reproductive outcome post surgery were analyzed. RESULTS: The surgical technique was based on section of the cervical part with scissors and hysteroscopic section of the uterine septum; no perforation was noted. Four patients required a second procedure to achieve complete uterine section. Five patients became pregnant after surgery, 8 pregnancies are reported: 2 term delivery, 1 preterm delivery, 4 miscarriages and 1 ectopic pregnancy. CONCLUSION: Complete surgical section of the cervical and uterine septum in case of complete septum uterus is safe. However, we cannot conclude about the obstetrical benefit of this surgical technique. A longer follow-up is needed.

Adult↗

PubMed2006

[Treatment of genital prolapse with a polypropylene mesh inserted via the vaginal route. Anatomic and functional outcome in women aged less than 50 years].

OBJECTIVES: We evaluated the results of surgical insertion of a polypropylene mesh via the vaginal route in young women presenting genital prolapse. MATERIAL AND METHODS: Retrospective study concerning 20 women under age 50 who underwent between July 2000 and December 2003 surgical insertion of an anterior (n=14), posterior (n=3) or double (anterior and posterior) (n=3) polypropylene mesh via the vaginal route. A minimum follow-up of 6 months was required for inclusion in the study. Anatomical results were assessed using the Pelvic Organ Prolapse Quantification (POP-Q) according to ICS (International Continence Society) recommendations. To document the functional results, the patients answered 3 validated self-assessment questionnaires related to pelvic symptoms, sexual behaviors and quality of life. RESULTS: Mean follow-up was 21 months (6 to 52 months). A vaginal erosion of the mesh occurred in 2 women (10%). Cystocele recurred in one woman among the 17 patients who had an anterior polypropylene mesh (Gynemesh, Gynecare, Ethicon). Seventeen women were sexually active before the surgical procedure and 19 post-operatively. Among these women, 5 (26%) reported alteration of sexual activity after surgery (with dyspareunia in 4 cases (21%)), and 14 women (74%) reported no changes or improvement in sexual activity. CONCLUSION: Surgical management of genital prolapse using a polypropylene mesh inserted via the vaginal route has proven its anatomical efficacy in young women. The potential adverse consequences on sexual life would require clinical research concerning the surgical approach (abdominal or vaginal route) and synthetic materials used in prolapse surgery for young women.

Adult↗

PubMed2006

Clinical practice evaluation of atosiban in preterm labour management in six European countries.

OBJECTIVE: To evaluate the efficacy and safety of early administration compared with standard administration of atosiban, when predefined eligibility criteria were met. DESIGN: A prospective, open-label, randomised clinical trial. Women were randomised to receive atosiban either immediately (early) or when specified criteria, in terms of duration/frequency of uterine contraction or status of cervical dilation/effacement, were fulfilled (standard). SETTING: Carried out at 105 centres in six European countries. POPULATION: Pregnant women admitted to hospital in threatened preterm labour between 24 and 34 weeks of gestation, comprising a subgroup of women enrolled in the Tractocile Efficacy Assessment Survey in Europe (TREASURE) clinical experience review. MAIN OUTCOME MEASURES: Efficacy was defined as the successful delay of delivery with no alternative tocolytic agent for 48 hours. RESULTS: More women in the early group remained undelivered at 48 hours with no alternative tocolytic agent compared with those who received atosiban when specified criteria were fulfilled (88.9 versus 76.1%; P = 0.03). Safety was comparable between the groups. There were no statistical differences in maternal, fetal or neonatal adverse events between the early and standard atosiban arms. CONCLUSIONS: The use of atosiban was effective for the delay of preterm labour and presented no safety concerns irrespective of the time it was administered.

Adolescent↗

PubMed2005

Myotonic dystrophy: does it affect ovarian follicular status and responsiveness to controlled ovarian stimulation?

BACKGROUND: Myotonic dystrophy (MD) is characterized by myotonia, multisystemic lesions and hypogonadism. In women, the relationship between MD and infertility remains controversial. This study investigated the ovarian status and response to controlled ovarian stimulation (COS) in MD women entering our preimplantation genetic diagnosis programme. METHODS: We elected to compare MD patients with X-linked disorders (XLD) carriers, given that XLD have not been shown to affect ovarian status. On the one hand, we analysed all the cycles performed and, on the other hand, we conducted a subanalysis based on only first cycles. RESULTS: MD and XLD groups were similar with regard to women's ages, day 3 parameters, number of oocytes retrieved, embryos obtained and prevalence of top quality embryos. The day of HCG was significantly delayed and the prevalence of poor quality embryos was higher in the MD group. The subanalysis on first cycles only also showed significantly fewer mature follicles on the day of HCG in MD population. Implantation and pregnancy rates were similar in both groups; however, no pregnancy occurred at the first cycle in MD (0 out of 4), whereas 77% of pregnancies (10/13) occurred at the first attempt in XLD carriers. CONCLUSIONS: These results indicate that the responsiveness to COS was moderately hindered in MD women as compared to controls. Reassuring data about implantation and pregnancy rates support the feasibility of PGD in selected mildly affected MD women.

Adult↗

PubMed2005

Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis.

BACKGROUND: Diseases arising from mitochondrial DNA (mtDNA) mutations are usually serious pleiotropic disorders with maternal inheritance. Owing to the high recurrence risk in the progeny of carrier females, "at-risk" couples often ask for prenatal diagnosis. However, reliability of such practices remains under debate. Preimplantation diagnosis (PGD), a theoretical alternative to conventional prenatal diagnosis, requires that the mutant load measured in a single cell from an eight cell embryo accurately reflects the overall heteroplasmy of the whole embryo, but this is not known to be the case. OBJECTIVE: To investigate the segregation of an mtDNA length polymorphism in blastomeres of 15 control embryos from four unrelated couples, the NARP mutation in blastomeres of three embryos from a carrier of this mutation. RESULTS: Variability of the mtDNA polymorphism heteroplasmy among blastomeres from each embryo was limited, ranging from zero to 19%, with a mean of 7%. PGD for the neurogenic ataxia retinitis pigmentosa (NARP) mtDNA mutation (8993T-->G) was therefore carried out in the carrier mother of an affected child. One of three embryos was shown to carry 100% of mutant mtDNA species while the remaining two were mutation-free. These two embryos were transferred, resulting in a singleton pregnancy with delivery of a healthy child. CONCLUSIONS: This PGD, the first reported for a mtDNA mutation, illustrates the skewed meiotic segregation of the NARP mtDNA mutation in early human development. However, discrepancies between the segregation patterns of the NARP mutation and the HV2 polymorphism indicate that a particular mtDNA nucleotide variant might differentially influenced the mtDNA segregation, precluding any assumption on feasibility of PGD for other mtDNA mutations.

Blastula↗

PubMed2005

Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.

(Y;autosome) translocations have been reported in association with male infertility. Different mechanisms have been suggested to explain the male infertility, such as deletion of the azoospermic factor (AZF) on the long arm of the Y chromosome, or meiosis impairment. We describe a new case with a de novo unbalanced translocation t(Y;22) and discuss the genotype-phenotype correlation. A 36 year old male with azoospermia was found to have a mosaic 45,X/46,X, + mar karyotype. Fluorescence in situ hybridization (FISH) showed the presence of a derivative Y chromosome containing the short arm, the centromere and a small proximal part of the long-arm euchromatin of the Y chromosome and the long arm of chromosome 22. The unstable small marker chromosome included the short arm and the centromere of chromosome 22. This unbalanced translocation t(Y;22)(q11.2;q11.1) generated the loss of the long arm of the Y chromosome involving a large part of AZFb, AZFc and Yq heterochromatin regions. Testicular tissue analyses showed sperm in the wet preparation. Our case shows the importance of documenting (Y;autosome) translocations with molecular and testicular tissue analyses.

Adult↗