Saturday, April 16, 2011

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

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C. Frapsauce1, C. Ravel1, M. Legendre2, M. Sibony3, J. Mandelbaum1, B. Donadille4, J.C. Achermann5, J.-P. Siffroi2,6 and S. Christin-Maitre4,6,*
1UPMC, AP-HP, Hôpital Tenon, Service de Biologie de la Reproduction, 75020 Paris, France
2AP-HP, Hôpital Trousseau, Service de Génétique et d'Embryologie Médicales, 75012 Paris, France
3AP-HP, Hôpital Tenon, Service d'Anatomopathologie, 75020 Paris, France
4Service d'Endocrinologie, Hôpital Saint-Antoine, AP-HP, Centre de maladies endocriniennes rares de la croissance CMERC, 75012 Paris, France
5Developmental Endocrinology Research Group, Clinical & Molecular Genetics, UCL Institute of Child Health, University College London, London WC1N 1EH, UK
6ER9, génétique de la reproduction, Faculté de médecine Pierre et Marie Curie, University Paris VI, France *Correspondence address. Service d'Endocrinologie, Hôpital Saint-Antoine, AP-HP, Centre de maladies rares de la croissance (CMERC), 184 rue du faubourg Saint-Antoine, ER-9 Université Paris VI, 75012 Paris, France. Tel: +33-1-49-28-24-00; Fax: +33-1-49-28-31-95; E-mail: sophie.christin-maitre{at}sat.aphp.frReceived July 4, 2010. Revision received November 30, 2010. Accepted December 3, 2010. DAX1/NR0B1 mutations are responsible for X-linked congenital adrenal hypoplasia (AHC) associated with hypogonadotropic hypogonadism (HH). Few data are available concerning testicular function and fertility in men with DAX1 mutations. Azoospermia as well as failure of gonadotrophin treatment have been reported. We induced spermatogenesis in a patient who has a DAX1 mutation (c.1210C>T), leading to a stop codon in position 404 (p.Gln404X). His endocrine testing revealed a low testosterone level at 1.2 nmol/l (N: 12–40) with low FSH and LH levels at 2.1 IU/l (N: 1–5 IU/l) and 0.1 IU/l (N: 1–4 IU/l), respectively. Baseline semen analysis revealed azoospermia. Menotropin (Menopur®:150 IU, three times weekly) and human chorionic gonadotrophin (1500 IU, twice weekly) were used. After 20 months of treatment, as azoospermia persisted, bilateral multiple site testicular biopsies were performed. Histology revealed severe hypospermatogenesis. Rare spermatozoa were extracted from the right posterior fragment and ICSI was performed. Four embryos were obtained and, after a frozen–thawed single-embryo transfer, the patient's wife became pregnant and gave birth to a healthy boy. We report the first case of paternity after TESE–ICSI in a patient with DAX1 mutation, giving potential hope to these patients to father non-affected children. Furthermore, this case illustrates the fact that patients with X-linked AHC have a primary testicular defect in addition to HH.

© The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

This ArticleHum. Reprod. (2011) 26 (3): 724-728. doi: 10.1093/humrep/deq372 First published online: January 11, 2011

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Effects of electric field on early preimplantation development in vitro in mice and rats

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Elena Popova, Michael Bader* and Alexander Krivokharchenko
Max-Delbrück Center for Molecular Medicine (MDC), Robert-Rössle-Str. 10, D-13125 Berlin-Buch, Germany *Correspondence address. Fax: +49-30-9406-2110; E-mail: mbader{at}mdc-berlin.deReceived October 6, 2010. Revision received November 30, 2010. Accepted December 7, 2010. BACKGROUND Exposure of cells to electric fields is a commonly used technique for parthenogenesis, cloning and tetraploid embryo production. However, little is known about possible detrimental effects of electric fields on embryos and their development. The aim of this study was to investigate the effects of electric fields on early preimplantation development in mice and rats.

METHODS Mouse and rat metaphase II (MII) and pre-activated oocytes, zygotes and 2-cell stage embryos were treated with electric fields with increasing voltage. Cleavage rate, morula and blastocyst formation were evaluated by in vitro cultivation. The effects of electric fields on embryos were investigated by measurement of reactive oxygen species (ROS) content and microtubule and microfilament distributions using fluorescence staining.

RESULTS Pre-activated oocytes at the pronuclear stage and zygotes are more resistant to electric exposure than freshly isolated oocytes at MII stage in both studied species. Rat zygotes treated with electric fields of increasing voltage showed higher cleavage rates compared with the mouse and some of them developed beyond 4-cell stage in vitro. Embryos blocked at the 2-cell stage after in vitro cultivation of zygotes exposed to electric fields demonstrated increased level of ROS but normal distributions of microtubules and microfilaments. In both species, embryos at the 2-cell stage were more resistant to electric fields because they formed tetraploid embryos after electric field-induced blastomere fusion and these embryos could develop in vitro until the blastocyst stage.

CONCLUSIONS There are stage-dependent and species-specific differences in sensitivity to electric fields in mouse and rats.

© The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com This ArticleHum. Reprod. (2011) 26 (3): 662-670. doi: 10.1093/humrep/deq379 First published online: January 11, 2011

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Serum anti-Mullerian hormone levels are negatively related to Follicular Output RaTe (FORT) in normo-cycling women undergoing controlled ovarian hyperstimulation

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V.K. Genro1,2,3,4, M. Grynberg1,2,3, J.B. Scheffer1,2,3, I. Roux1,2,3, R. Frydman1,2,3 and R. Fanchin1,2,3,*
1Service de Gynécologie-Obstétrique et Médecine de la Reproduction, AP-HP, Hôpital Antoine Béclère, 157, rue de la Porte de Trivaux, Clamart F-92141, France
2Univ Paris-Sud, Clamart F-92140, France
3INSERM, U782, Clamart F-92140, France
4Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Porto Alegre, Brazil *Correspondence address. Tel: +33-1-45-37-40-53; Fax: +33-1-45-37-49-80; E-mail: renato.fanchin{at}abc.ap-hop-paris.frReceived August 25, 2010. Revision received November 9, 2010. Accepted November 24, 2010. BACKGROUND Since in rodents anti-Müllerian hormone (AMH) has been shown to inhibit antral follicle responsiveness to FSH, we aimed at verifying whether a relationship exists between serum AMH levels and antral follicle responsiveness to exogenous FSH in normo-cycling women.

METHODS Serum AMH, estradiol (E2) and FSH levels were prospectively measured on cycle day 3 in patients undergoing controlled ovarian hyperstimulation (COH) with a time-release GnRH agonist and standardized FSH doses. In 162 patients, follicles were counted after pituitary suppression and before FSH administration (baseline; small antral follicles; 3–8 mm), and on the day of hCG (dhCG; pre-ovulatory follicles; 16–22 mm). Antral follicle responsiveness to FSH was estimated by the Follicular Output RaTe (FORT), determined by the ratio pre-ovulatory follicle count on dhCG × 100/small antral follicle count at baseline.

RESULTS Serum AMH levels were positively correlated with the number of small antral follicles at baseline (r = 0.59; P < 0.0001) and pre-ovulatory follicles on dhCG (r = 0.17; P < 0.04). Overall, FORT was 47.5 ± 1.4% and failed to be influenced by the woman's age, BMI or basal E2 and FSH level. Conversely, multiple regression analysis showed that FORT was negatively correlated with AMH levels (r = -0.30; P < 0.001), irrespective of duration of COH and total FSH dose.

CONCLUSIONS The percentage of follicles that effectively respond to FSH by reaching pre-ovulatory maturation is negatively and independently related to serum AMH levels. Although the mechanisms underlying this finding remain unclear, it is in keeping with the hypothesis that AMH inhibits follicle sensitivity to FSH.

© The Author 2010. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com This ArticleHum. Reprod. (2011) 26 (3): 671-677. doi: 10.1093/humrep/deq361 First published online: December 21, 2010

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Sperm and oocyte donors' experiences of anonymous donation and subsequent contact with their donor offspring

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V. Jadva1,*, T. Freeman1, W. Kramer2 and S. Golombok1
1Centre for Family Research, Faculty of Politics, Psychology, Sociology and International Studies, Free School Lane, University of Cambridge, Cambridge CB2 3RF, UK
2Donor Sibling Registry, PO Box 1571, Nederland, CO 80466, USA *Correspondence address. Fax: +44-1223-330574; E-mail: vj227{at}cam.ac.ukReceived July 15, 2010. Revision received November 19, 2010. Accepted November 26, 2010. BACKGROUND This study examined the motivations and experiences of anonymous donors who decide to make themselves open to contact with their donor offspring.

METHODS Online questionnaires were completed by 63 sperm donors and 11 oocyte donors recruited via the Donor Sibling Registry (http://www.donorsiblingregistry.com/), a US-based international registry that facilitates contact between donor-conceived offspring and their donors.

RESULTS Donors' main reasons for donating were financial payment and wanting to help others. Sperm donors had donated between 1 and 950 times (median = 100) and oocyte donors had donated between 1 and 5 times (median = 2). The majority of sperm donors and more than one-third of oocyte donors expressed concerns about having donated. These concerns were mainly about the well-being of any children conceived using their gametes and not being able to make contact with them. Most sperm and oocyte donors felt that it was important to know how many offspring had been born using their donation, and 51% of sperm donors and 46% of oocyte donors wanted identifying information. All of the donors who had contact with their donor offspring reported positive experiences and the majority continued to have regular contact.

CONCLUSIONS Although the sample may not be representative of all anonymous donors, this study highlights the importance of donors having access to information about their donor offspring and the positive consequences that may arise when contact is made.

© The Author 2010. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com This ArticleHum. Reprod. (2011) 26 (3): 638-645. doi: 10.1093/humrep/deq364 First published online: December 21, 2010

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Decisional conflict and the disposition of frozen embryos: implications for informed consent

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A.D. Lyerly1,2,*, S. Nakagawa3 and M. Kuppermann3
1Department of Social Medicine, University of North Carolina, Chapel Hill, NC, USA
2Center for Bioethics, University of North Carolina, Chapel Hill, NC, USA
3Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, CA, USA *Correspondence address. University of North Carolina at Chapel Hill, School of Medicine, CB#7240, 333 South Columbia Street, MacNider Hall, Chapel Hill, NC 27599-7240, USA. Tel: +1-919-962-6735; Fax: +1-919-962-2154; E-mail: alyerly{at}email.unc.eduReceived September 17, 2010. Revision received November 1, 2010. Accepted November 29, 2010. BACKGROUND Fertility patients often struggle with decisions about disposition of embryos remaining after fertility treatment. We aimed to identify predictors and correlates of decisional conflict among patients facing these decisions.

METHODS We analyzed results from a survey of 2210 patients from nine geographically diverse US fertility clinics. The main outcome measure was decisional conflict about embryo disposition, as measured by the decisional conflict scale (DCS).

RESULTS Of 1244 respondents who returned the survey, 1005 with cryopreserved embryos and DCS scores were included in the analysis. Of the respondents, 39% reported high decisional conflict (DCS = 37.5). Thoughts about future childbearing were associated with high decisional conflict: respondents who were either uncertain about whether to have a baby in the future or sure they did not want to have a baby were at higher odds of high decisional conflict than participants who desired a baby [adjusted odds ratio (aOR) = 3.93, P < 0.001 and aOR = 1.69, P = 0.04, respectively]. Also associated with high decisional conflict were being likely to have embryos thawed and discarded (aOR = 2.08, P < 0.001), donated for research (aOR = 1.66, P = 0.01) or frozen ‘forever’ (aOR = 1.90, P = 0.01); being likely to choose compassionate transfer if it were available (aOR = 1.65, P = 0.03); attributing high, but not full, moral status to human embryos; not having enough information; and not being satisfied with the informed consent process.

CONCLUSIONS Decisional conflict about frozen embryo disposition differs according to reproductive preferences that may vary according to stage of treatment. Informed consent for embryo disposition should be revisited periodically, with serious discussions about disposition after childbearing is complete.

© The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com This ArticleHum. Reprod. (2011) 26 (3): 646-654. doi: 10.1093/humrep/deq368 First published online: January 7, 2011

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Advanced glycation end-products accumulation compromises embryonic development and achievement of pregnancy by assisted reproductive technology

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Masao Jinno1,*, Masayoshi Takeuchi2, Aiko Watanabe1, Koji Teruya3, Jun Hirohama1, Noriko Eguchi1 and Aiko Miyazaki4
1Women's Clinic Jinno, 3-1-39-201 Kokuryou-chou, Choufu City, Tokyo 182-0022, Japan
2Department of Life Pharmacy, Faculty of Pharmaceutical Sciences, Hokuriku University, Kanazawa City, Ishikawa, Japan
3Department of Public Health, School of Health Sciences, Kyorin University, Hachioji City, Tokyo, Japan
4HUSHIMI Pharmatheuticals, Kagawa, Japan *Correspondence address. Tel: +81-424-80-3105; Fax: +81-424-80-3105; E-mail: mjinno{at}s9.dion.ne.jpReceived August 20, 2010. Revision received December 2, 2010. Accepted December 10, 2010. BACKGROUND Advanced glycation end-products (AGE) are pivotal in aging and diabetes. Aging and polycystic ovary syndrome, a diabetes-associated disease, often cause infertility. We examined how AGE accumulation affects assisted reproductive technology (ART) outcomes.

METHODS In this retrospective analysis, toxic AGE (TAGE), pentosidine (Pent) and carboxymethyl lysine (CML) in blood and follicular fluid (FF) were measured in 157 ART-patients. We analyzed associations of AGE with ART outcomes and pre-ART clinical factors.

RESULTS TAGE, Pent and CML in FF and TAGE in serum, showed significant negative correlations with estradiol and numbers of follicles larger than 12 mm in diameter, retrieved oocytes, fertilized oocytes and embryos. AGE, Pent in FF and TAGE in serum showed significant negative correlations with ongoing pregnancy. Areas under receiver-operating characteristic curves for AGE (0.709), Pent in FF (0.686) and TAGE in serum (0.667) were significantly larger than for the reference (0.5). Women with serum TAGE above 7.24 U/ml showed decreased oocyte numbers and ongoing pregnancy rates, even with younger age or lower Day-3 FSH. Serum TAGE correlated positively with leptin (R = 0.51), BMI, low-density lipoprotein, triglyceride, glucose, homeostasis model assessment-insulin resistance and insulin.

CONCLUSIONS Serum TAGE and FF Pent accumulations correlated highly with poor follicular and embryonic development and with a lower likelihood of ongoing pregnancy. Serum TAGE predicts poor ART outcomes independent of age and Day-3 FSH.

© The Author 2011. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com This ArticleHum. Reprod. (2011) 26 (3): 604-610. doi: 10.1093/humrep/deq388 First published online: January 12, 2011

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Friday, April 15, 2011

Social age deadlines for the childbearing of women and men

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F.C. Billari1,*, A. Goisis1,2, A.C. Liefbroer3,4, R.A. Settersten5, A. Aassve1, G. Hagestad6 and Z. Spéder7
1Department of Decision Sciences, Carlo F. Dondena Centre for Research on Social Dynamics and IGIER, Bocconi University, Roentgen 1, 20136 Milan, Italy
2Department of Social Policy, The London School of Economics and Political Science, Houghton Street, London WC2A 2AE, UK
3Netherlands Interdisciplinary Demographic Institute, PO Box 11650, 2502 AR The Hague, The Netherlands
4Department of Social Research Methodology, VU University Amsterdam, De Boelelaan 1081, 1081 HV Amsterdam, The Netherlands
5Department of Human Development and Family Sciences, Oregon State University, Corvallis, OR 97331, USA
6NOVA/ Norwegian Social Research, PO Box 3223 Elisenberg, 0208 Oslo, Norway
7Demographic Research Institute HCSO, Buday László 1-3, H-1024 Budapest, Hungary *Correspondence address. E-mail: billari{at}unibocconi.itReceived August 2, 2010. Revision received November 9, 2010. Accepted November 24, 2010. BACKGROUND This study examines whether social age deadlines exist for childbearing in women and men, how they vary across countries, whether they are lower than actual biological deadlines and whether they are associated with childbearing at later ages and the availability of assisted reproduction techniques (ARTs).

METHODS This study is based on the European Social Survey, Round 3 (2006–2007), which covers 25 countries. Data were gathered on social age deadlines for childbearing in women (21 909 cases) and men (21 239 cases) from samples of representative community-dwelling populations aged 15 and older.

RESULTS Social age deadlines for childbearing were perceived more frequently for women than men. These deadlines are often lower than actual biological limits, and for women and men alike: 57.2% of respondents perceived a maternal social age deadline =40 years of age; 46.2% of the respondents perceived a paternal social age deadline =45 years of age. There is also considerable variability in deadlines across countries, as well as within them. At the country level, the presence of social age deadlines for the childbearing of women was negatively associated with birth rates at advanced ages and the prevalence of ART, and later deadlines were positively associated with these factors.

CONCLUSIONS It is important to understand the factors that increase and limit late fertility. While biological factors condition fertility, so do social expectations. These findings provide widespread evidence across Europe that social limits exist alongside biological ones, though both sets of factors are more binding for women.

© The Author 2010. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology.This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

This ArticleHum. Reprod. (2011) 26 (3): 616-622. doi: 10.1093/humrep/deq360 First published online: December 15, 2010

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