XX males without SRY gene and with infertility.

The case of a 28 year old male with normal male phenotype, in whom repeated seminal analysis showed complete azoospermia, is presented. Peripheral blood culture for chromosome studies revealed 46 chromosomes with XX constitution. Polymerase chain reaction (PCR) analysis of genomic DNA failed to detect the presence of the sex-determining region of the Y chromosome (SRY). A literature review of all SRY-negative XX males with normal male phenotype showed that this case is the sixth reported case but the first to be diagnosed during the investigations of infertility. The frequency, aetiology and diagnosis of this rare syndrome are also reviewed.

Monozygotic twinning and IVF/ICSI treatment: a report of 11 cases and review of literature.

Monozygotic twinning is a relatively rare event in in-vivo conception, being estimated to occur in 0.42% of all births. The underlying mechanism for monozygotic twin formation is the division of the embryo early in its development. Separation of cells may theoretically occur before or after inner cell mass formation. In this analysis we report 11 cases of monozygotic twins resulting from IVF or intracytoplasmic sperm injection (ICSI) treatment cycles performed between 1991 and 1998 at St James's University Hospital, Leeds, and Bourn Hall Clinic, Cambridge, UK. Six cases (55%) followed treatment with ICSI and seven cases (64%) were in women aged > or = 35 years. This article also reviews the scientific literature discussing information pertaining to frequency, aetiology and potential complications of the monozygotic twinning phenomenon. We conclude that patients at risk of monozygotic twinning are those aged >35 years of age and those who had artificial opening in the zona pellucida by application of micromanipulation techniques. Women undergoing assisted conception treatment, particularly those with these two risk factors, must be informed of the low but definite risk of monozygotic twinning when counselled regarding the number of embryos to be transferred and chances of multiple births.

The case for routine HIV screening before IVF treatment: a survey of UK IVF centre policies.

The case for routine human immunodeficiency virus (HIV) screening of all couples seeking assisted reproductive treatment is so strong that it should be made obligatory for all couples entering IVF programmes to be given information about HIV transmission, and offered testing. In August 1999, questionnaires regarding routine HIV screening of couples seeking IVF treatment were sent to the medical directors of the 74 licensed assisted conception units in the UK. Of the 45 (60.8%) centres who responded, 19 (42.2%) routinely screen both partners for HIV antibodies, 25 (55.5%) do not screen and one centre selectively screens high-risk patients. There was no significant difference in the proportion of centres that routinely carried out screening with regards to the unit size: six out of 13 (46.2%) small units compared with 13/32 (40.6%) large units. In all, 17 centres (37.8%) rated HIV screening as essential, nine (20%) as desirable, 11 (24.4%) as not required, while eight (17. 8%) centres did not comment. Of the 19 centres that have a routine screening policy, 18 have management protocols in the event that the test is positive. Of these 18 centres, 12 adhere rigidly to the protocol, while five centres adhere to the protocol with few exceptions and the remaining one uses its protocol for guidance only. The main reasons for not employing routine HIV screening were: the lack of cost effectiveness, low prevalence of HIV infection in their population, necessity for and cost of counselling, uncertainty about the need for screening and potential delay to start of treatment.

Extra-uterine pregnancy following assisted conception treatment.

Ectopic pregnancy may be the only life-threatening disease in which prevalence has increased as mortality has declined. The most prominent theory to explain this phenomenon involves increased sensitivity of serum beta-human chorionic gonadotrophin (HCG) immunoassay and improved quality of transvaginal ultrasound, combined with a heightened awareness and increased suspicion of the condition among clinicians which has allowed early detection of ectopic pregnancy. Laparotomy, once the standard treatment of ectopic pregnancy, has been replaced almost entirely by operative laparoscopy. This is associated with a shorter hospital stay, fewer post-operative analgesic requirements, reduced costs and lower risk of adhesion formation. Laparotomy, however, remains necessary in cases with haemodynamic instability and with exceptional locations, e.g. cervical, abdominal and interstitial implantation. In selected cases, non-surgical management has also obtained high success rates. Among medical therapies, the most common is systemic or local administration of methotrexate. The other option is expectant management involving follow-up using serial serum HCG measurements and ultrasound scans. Thus, life-threatening ectopic pregnancy is now evolving into a medical disease, with the possibility of lower-cost treatment, faster recovery and higher subsequent fertility. In this review we assess the risk of extra-uterine implantation after assisted conception treatment, the accuracy of various diagnostic tools and focus on the efficacy, safety and the fertility outcomes of surgical and nonsurgical management of ectopic pregnancy.

IVF performance of women who have fluctuating early follicular FSH levels.

OBJECTIVES: The aim was to evaluate whether women who have early follicular follicle-stimulating hormone (FSH) levels > 12 mIU/ml have reduced response to follicular stimulation for in vitro fertilization (IVF) in a following month, in spite of normal FSH levels. MATERIAL AND METHODS: In a 3-year period from January 1996 to December 1998, 303 women aged 38 years and above and/or who had previously responded poorly to superovulation for IVF gave blood samples for FSH, luteinizing hormone (LH), and estradiol (E2) on day 2 of menstruation before commencing treatment. RESULTS: In 117 (38.6%) of these women, FSH levels were > 12 mIU/ml (range 12-114 mIU/ml). Sixty-six of these women gave a further 130 blood samples for FSH measurement in the following months. Seventy-eight (60.0%) of the tests showed raised FSH value > 12 mIU/ml. Thirty women whose repeat FSH levels were < 12 mIU/ml underwent 41 IVF cycles (group 1). Sixty-three other women, older than 38 and/or who had a poor response to superovulation previously and whose FSH levels were < 12 mIU/ml, served as the control group (group II). There were no differences in the responses to superovulation and delivery rates between the two groups (14.6% vs. 12.7%). CONCLUSIONS: Women whose early follicular phase FSH levels were raised > 12 mIU/ml had an increased risk (> 50%) that in subsequent cycles levels would remain raised, and it was not possible to predict which individuals would have favorable FSH levels. If the cycle day 2 FSH level returns to a "normal" level of < 12 mIU/ml, women aged 40 and above had substantial cycle cancellation rates (43%), but patients who achieved the stage of embryo transfer had a good chance of conceiving, regardless of their age.

How useful is cervical dilatation in patients with cervical stenosis who are participating in an in vitro fertilization-embryo transfer program? The Bourn Hall experience.

OBJECTIVE: To evaluate the place of cervical dilatation performed at the initial visit in an IVF-ET cycle in patients with known cervical stenosis. DESIGN: Retrospective study. SETTING: A tertiary care assisted conception unit. PATIENT(S): Fifty-seven patients who failed to conceive after a previous ET attempt and in whom the ET was classified as "difficult." INTERVENTION(S): Cervical dilatation under general anesthesia after pituitary suppression and before gonadotropin stimulation. MAIN OUTCOME MEASURE(S): Ease of the ET procedure and clinical pregnancy rate. RESULT(S): Eighteen (31.6%) of 57 women who failed to conceive after a previous attempt at IVF-ET achieved a clinical pregnancy after cervical dilatation. In 40 patients (70.2%), the subsequent ET was classified as "easy," whereas in the other 17 (29.8%), it remained difficult. The pregnancy rate was significantly higher when the ET was easy than when it was difficult (40% versus 11.8%, P<.05). CONCLUSION(S): In patients with cervical stenosis and a previous difficult ET, cervical dilatation during the initial visit leads to an easier subsequent ET and improves the pregnancy rate.

The effect of endometrial polyps on outcomes of in vitro fertilization (IVF) cycles.

PURPOSE: Our purpose was to investigate the effect of endometrial polyps on pregnancy outcome in an in vitro fertilization (IVF) program. METHODS: Endometrial polyps less than 2 cm in diameter were suspected by transvaginal ultrasound before oocyte recovery in 83 patients. Forty-nine women (Group I) had standard IVF-embryo transfer, while in 34 women (Group II) hysteroscopy and polypectomy were performed immediately following oocyte retrieval, the suitable embryos were all frozen, and the replacement cycle took place a few months later. RESULTS: Of the 32 hysteroscopies, a polyp was diagnosed in 24 cases (75%) and polypoid endometrium in another 5 patients (15.6%). An endometrial polyp was confirmed by histopathological examination in 14 women (58.3%). The pregnancy rate in group I was similar to the general pregnancy rate of our unit over the same period (22.4 vs 23.4%) but the miscarriage rate was higher (27.3 vs 10.7%, P = 0.08). In Group II, the pregnancy and miscarriage rates were similar to those of the frozen embryo cycles at Bourn Hall (30.4 and 14.3 vs 22.3 and 12.1%, respectively). CONCLUSIONS: Small endometrial polyps, less than 2 cm, do not decrease the pregnancy rate, but there is a trend toward increased pregnancy loss. A policy of oocyte retrieval, polypectomy, freezing the embryos, and replacing them in the future might increase the "take-home baby" rate.

A programme of semen cryopreservation for patients with malignant disease in a tertiary infertility centre: lessons from 8 years' experience.

The improved survival in recent years of young males suffering from cancer, and an understanding of the gonadotoxic effects of chemotherapy treatment, have motivated patients and clinicians to preserve fertility potential before embarking on adjuvant therapy. Among 231 men (mean age 28.0; range 15-56 years) diagnosed with malignant disease and referred to our unit for semen cryopreservation, 112 patients (49.8%) had reduced sperm quality of <10 x 10(6) motile spermatozoa per ejaculate; however, most had sufficient suitable spermatozoa for freezing. In 40 patients (17.3 %) the semen samples were not frozen because of complete azoospermia (n = 32) or only immotile sperm in the ejaculate (n = 2), while six men were unable to produce a single sample. Some 79 men had testicular tumours (group I), 121 suffered from haematological malignancy (leukaemia or lymphoma; group II), and 27 had cancer of different causes (group III). Men in group I had significantly lower (P < 0.001) sperm quality compared with groups II and III. There was no difference between patients with seminoma and non-seminoma tumours. In the haematological malignancy group there was no difference in sperm parameters between leukaemia (n = 12) and lymphoma (n = 77) patients, but patients with Hodgkin's lymphoma had significantly lower sperm quality compared with non-Hodgkin's lymphoma. Following chemotherapy, six couples attended the clinic for assisted conception treatment using the frozen semen. Two had successful intrauterine insemination cycles which each resulted in delivery of a healthy girl; one couple had conceived in their first in-vitro fertilization (IVF) attempt, followed by delivery of healthy twins. Two women conceived after intracytoplasmic sperm injection treatment and the sixth woman achieved only biochemical pregnancy after numerous IVF and frozen embryo replacement cycles. We recommend that a properly designed programme for semen cryopreservation for cancer patients should be developed in leading tertiary assisted conception centres, which have adequate facilities and experience for cryopreservation and can offer the whole range of appropriate assisted reproductive treatment and counselling.

Does ovarian hyperstimulation syndrome affect the quality of oocytes?

Two wives of a Muslim with severe male factor infertility had simultaneous intracytoplasmic sperm injection (ICSI) treatments. One wife developed ovarian hyperstimulation syndrome (OHSS), and 19 of 27 oocytes retrieved were subjected to ICSI but only one fertilized; the other wife had a normal response to ovarian stimulation, normal fertilization following ICSI, successful treatment and has recently delivered a live-born infant. The wife who suffered from OHSS has since had another ICSI cycle with a normal response to ovarian stimulation, a normal fertilization rate but no pregnancy. The only variable that determined the different rate of fertilization in the simultaneous ICSI cycles appears to be oocyte quality. While the results of frozen embryo replacement cycles following the decision to freeze all embryos following OHSS is generally satisfactory, it is important to counsel couples about the possible detrimental effects of OHSS on oocyte quality.

Combined fresh and frozen embryo transfer resulting in a twin delivery.

We report the delivery of non-identical twins resulting from the combined transfer of one fresh and one frozen embryo to a 31 year old patient. To our knowledge, this is the first reported case where both a fresh and a frozen embryo implanted in the same cycle led to non-identical twins. We conclude that supernumerary embryos after in-vitro fertilization should be frozen and used in subsequent cycles, with implantation potentials as high as fresh embryos. The possibility of mixing fresh and frozen embryos, though rarely needed, should be considered, particularly when there is only one fresh embryo available for transfer.

Dynamics of human follicular growth and in-vitro oocyte maturation.

The physiological trigger for meiotic resumption in the human oocyte is the surge of luteinizing hormone, but it can also occur spontaneously if oocytes are released from antral follicles and cultured in vitro. The development of novel techniques for the culture of murine oocytes has raised the possibility of growing human oocytes to maturity in vitro. Such a system could open the door to a number of techniques with revolutionary consequences. It would clearly be of benefit in basic physiological studies of follicular development, as well as being used to test the effect of toxicological substances on oocyte maturation. More significantly, such a system could provide a source of human oocytes for in-vitro fertilization (IVF) where immature or germinal vesicle oocytes are cultured to maturity before being fertilized. If this can be achieved, it might facilitate oocyte cryopreservation, where surplus oocytes are stored, thus avoiding the need for repeated superovulation. A combination of immature oocyte cryopreservation for later maturation and IVF will provide the opportunity to establish oocyte banks and help overcome some of the practical and ethical dilemmas that are currently shadowing the field of reproductive medicine.