Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report.

Klinefelter syndrome represents the most commonly found human sex chromosomal abnormality. It is characterized by small, firm testes with hyalinization of the seminiferous tubules, elevated gonadotropins and azoospermia. Males with Klinefelter syndrome may have a 47,XXY or a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome, is very rare and so far only 10 cases have been described in literature [1,2,5,8,10,15,22,23,25,44]. We report here a case of a mosaic 47,XXY/46,XX infertile male in whom detailed cytogenetic, histological and molecular studies were performed. Cytogenetic analysis revealed 80% and 50% mosaicism for the 46,XX cell line in blood lymphocytes and in skin fibroblasts, respectively, and the presence of 47,XXY cells only, in cultured testicular tissue. Testicular histopathology revealed atrophy of the testes with no spermatogenesis and absence of germ cells. Molecular analysis showed paternal inheritance of the extra X chromosome.

Saline contrast hysterosonography in infertile patients and in women with abnormal uterine bleeding.

OBJECTIVE: We conducted this prospective study to evaluate saline contrast hysterosonography (SCHS) as a diagnostic modality for intrauterine lesions in comparison to hysteroscopy and endometrial biopsy. MATERIALS AND METHODS: We included 135 patients, of whom 70 presented with abnormal uterine bleeding and 65 with subfertility problems. All cases were examined with conventional transvaginal sonography and were further investigated with SCHS using saline as contrast medium, and finally hysteroscopy with endometrial biopsy that was used as the reference test. RESULTS: SCHS revealed the presence of intrauterine pathology in 23 cases and failed in three (4.2%). SCHS had a sensitivity of 94%, a specificity of 71%, a positive predictive value of 76% and a negative predictive value of 95% in the abnormal uterine group. In subfertile patients, SCHS revealed the presence of intrauterine pathology in 34 cases and had a sensitivity of 96%, a specificity of 74%, a positive predictive value of 79% and a negative predictive value of 95%. CONCLUSIONS: We found that SCHS is an extremely accurate modality for the diagnosis of focal endometrial pathology, compared to diagnostic hysteroscopy.

Endometriosis and reproductive disorders.

The classic concept of endometriosis as a cause of infertility is challenged. Traditionally, both surgical and medical therapy have focused on alleviation of symptoms, prevention of disease progression, and promotion of fertility. In spite of significant developments in medical and surgical approaches, the optimal therapy for treating endometriosis-associated infertility has yet to be established. The relationship between prevalence of fecundity and stage of the disease was studied according to the type of management. Of 151 women who were consecutively proved by laparoscopy to have endometriosis stage I and II, operative laparoscopy was performed in 49, medical treatment in 59, and expectant management in 43 cases. During a 24-month period, the cumulative pregnancy rates were 36.7%, 30.5%, and 20.9%, respectively. Survival analysis over the 20 weeks of pregnancy showed that the probability of carrying the pregnancy beyond this week was 30.6%, 25.4%, and 16.2%, respectively. Of 64 patients with advanced disease, 34 (53%) became pregnant during the 2-year follow-up period. A significantly increased pregnancy rate was found for the first year as compared to the second (76% vs. 24%). The existence of adhesions affected adversely the outcome of the treatment when early achievement of pregnancy is considered. Diagnosis and treatment of endometriosis was beneficial for the infertile women. Laparoscopic surgery seems to be the best treatment in these cases, as it increases the fecundity and involves minimal risk.

Knowledge, attitude, and behavior of female students concerning contraception in Athens, Greece.

The aims of this study were to investigate the knowledge, attitudes and behavior of female high school and university students concerning contraception. The study was performed at the Alexandra University Hospital in Athens. A total of 297 female students participated in the study. A questionnaire was used to evaluate the depth of knowledge and attitude of respondents concerning contraception. Our findings suggest students have a defective knowledge of contraception. Their main source of information were friends but the majority would prefer to receive information from doctors. The most popular contraceptive method was the male condom. The attitude and behavior of young women in our study were consequently defective. In conclusion, there is a need to provide students with correct, detailed and broad-based information on conception and contraception as part of the school curriculum to help them acquire adequate knowledge and develop appropriate attitudes on contraception and sexual health.

Fecundity of infertile women with minimal or mild endometriosis. A clinical study.

Despite significant developments in medical and surgical approaches for treating endometriosis, the optimal therapy has yet to be established. The relationship between prevalence of fecundity and stage of endometriosis according to their management was studied. Of 151 consecutive women with laparoscopy-proved endometriosis stage-1 and 2, operative laparoscopy was performed in 49, medical treatment in 59 and expectant management in 43 cases. During a 24-month period the cumulative pregnancy rates were found to be 36.7%, 30.5% and 20.9% respectively. Survival analysis showed that the probability of carrying the pregnancy beyond 20 weeks were 30.6%, 25.4% and 16.2% respectively. Diagnosis and treatment of early endometriosis is beneficial for the infertile women. Laparoscopic surgery seems to be the milestone of treatment in these cases, increasing the fecundity and involving minimal risk.

An XY female with Müllerian duct development and persistent Wolffian duct structures.

Disorders of sexual differentiation are usually diagnosed at an early age. We hereby describe a case of a 29-year-old phenotypic woman who during the evaluation of amenorrhea was found to have a 46, XY karyotype. Further evaluation (including laparoscopy) suggested that she presented a variant of gonadal dysgenesis, with the particularity of having well-developed müllerian structures and testicular remnants alongside a steroid-producing gonadoblastoma.

Postoperative ascites developing after laparoscopic surgery can become a difficult diagnostic dilemma.

Postoperative ascites is a rare complication of laparoscopic surgery. Life-threatening and serious etiologies such as unrecognized bowel or urinary tract injury should be excluded promptly to avoid prolonged morbidity and even mortality. Occasionally, no definitive cause can be identified after an extensive diagnostic work-up. In such cases, idiopathic allergic or inflammatory peritoneal reaction may be the final diagnosis.

Ovarian tumors in young females. A laparoscopic approach.

Ovarian tumors are one of the major preoccupations in the everyday practice of gynecology. During the period January 1997 through December 2000, 54 cases of ovarian tumors in young females aged 14-20 years were diagnosed and managed laparoscopically in our institution. Twenty-two cases of mature cystic teratoma, 12 cases of endometriosis, eight cases of serous cystadenoma, five cases of mucinous cystadenoma, three cases of fibroma-thecoma, two cases of serous low-malignant tumors and one case of mucinous low-malignant tumor were found. The management of ovarian tumors during this age by laparoscopic techniques represents an efficient and safe procedure.

Laparoscopic treatment of hydrosalpinx: factors affecting pregnancy rate.

STUDY OBJECTIVE: To evaluate the efficacy of laparoscopic surgery in a series of women with hydrosalpinx. DESIGN: Prospective, observational study (Canadian Task Force classification II-2). Setting. University-affiliated hospital. PATIENTS: Sixty-one women undergoing bilateral neosalpingostomy and restoration of tubal ovarian anatomy laparoscopically, and followed for 24 months. INTERVENTION: Video-controlled operative laparoscopy using standard four-puncture technique. MEASUREMENTS AND MAIN RESULTS: During 24-month follow-up, cumulative intrauterine pregnancy rates at 6-month intervals were 6.8%, 13.6%, 20.5%, and 20.5% for patients with only distal tubal obstruction and 12%, 23%, 29%, and 29% for those with mild degree of tubal disease and periadnexal adhesions. Miscarriage rate for intrauterine pregnancies was zero in both groups. CONCLUSION: Operative laparoscopy seems to be an effective treatment for hydrosalpinx in terms of pregnancy outcome.

Adhesions: laparoscopic surgery versus laparotomy.

This study was undertaken to assess the effectiveness in pregnancy rates of microsurgery and operative laparoscopy in adhesiolysis. Adhesions were found to be the sole infertility factor in 15% of our patients. One hundred and ninety infertile patients with periadnexal adhesions as the only cause of their infertility were treated by microsurgery (86) or operative laparoscopy (104) and were followed up for 24 months. Our results indicate that advanced laparoscopic surgery in general is as effective as microsurgery in healthy infertile patients with adhesions but offers some advantages in comparison to laparotomy. Factors that adversely affect the postoperative success rates are the age of the women, the duration of infertility, and the severity of the adhesions.

Biological factors in culture media affecting in vitro fertilization, preimplantation embryo development, and implantation.

Optimal culture conditions are of paramount importance for in vitro fertilization of gametes, preimplantation embryo development, and implantation for all species. Water is the basis of all culture media, and ultrapure water should be employed. The main energy sources of a medium are lactate, pyruvate, and glucose. The concentrations of the first two vary in different media, whereas the latter is necessary mainly for the later stages (morula to blastocyst) of development. A fixed nitrogen source is essential for implantation embryo development whether this is provided by amino acids, albumin, or serum. Suboptimal culture conditions can block development. Pronuclear zygotes of most species (but not human) arrest at some point between the two-cell and the 16-cell stage. Modifying culture conditions can lead the embryos to develop through this block. Hypoxanthine also causes a two-cell block to mouse pronuclear zygotes, and this again depends largely on culture conditions. Simple culture media are bicarbonate-buffered systems with pyruvate, lactate, and glucose. Complex media, such as Ham's F-10, contain in addition amino acids and other elements found in serum. Human tubal fluid simulates the fallopian tube microenvironment. EDTA, gonadotropins, growth factors, and other substances can be included in the media to stimulate development. Coculture of embryos with oviductal cells has shown promising results.

Laparoscopic gonadectomy in a patient with testicular feminization syndrome.

A laparoscopic technique is reported as an operative approach for gonadectomy in a case of testicular feminization syndrome. A 17-year-old phenotypic female presented with primary amenorrhea and was evaluated through a diagnostic protocol that included clinical, cytogenetic, and hormonal examinations. The findings supported the diagnosis of testicular feminization syndrome. The left gonad was found at the internal opening of the inguinal canal and removed laparoscopically. No gonad was found at the contralateral side. No complications occurred during the operation and the patient left the hospital the same day. A long-term hormonal replacement treatment was initiated postoperatively.

Laparoscopic treatment of massive ovarian edema.

Massive ovarian edema is an unusual cause of ovarian enlargement in young girls and women. A woman with the disorder was managed laparoscopically by wedge resection of the ovary. We believe that endoscopic surgery is the appropriate approach for ovarian edema, as it establishes the diagnosis by minimally invasive means and at the same time ensures conservative treatment.

Factors affecting postoperative pregnancy rate after endoscopic management of large endometriomata.

OBJECTIVE: To identify factors influencing postoperative pregnancy rate in women with extensive endometriosis and large endometriomata as the only identified cause of infertility that were treated by laparoscopy. METHOD: Sixty-four infertile patients with endometriomata (> or = 3 cm) and no other apparent cause of infertility. The latter were removed by operative laparoscopy. Life table calculations, the Student's t-test and the chi2 test were used where appropriate. RESULT: Thirty-four patients (53%) became pregnant during the 2-year follow-up period. A significantly increased pregnancy rate was found for the first year compared to the second (76 vs. 24%). The existence of adhesions affected adversely the outcome of the operation only as far as early achievement of pregnancy is considered. The number and size of endometriomata and the existence of peritoneal implants have not been found to affect pregnancy rates. The severity of the disease did not affect pregnancy rate, but in the cases with moderate disease most of the pregnancies were achieved during the first postoperative year. The duration of infertility was significantly associated only at the 10% level with decreased pregnancy rates. CONCLUSION: Extensive endometriosis with large endometriomata can be safely and effectively treated with laparoscopy using the traditional laparoscopic tools providing the infertile patient with a high chance to conceive in a relatively short period of time postoperatively.

Effects of two combined monophasic and triphasic ethinylestradiol/gestodene oral contraceptives on natural inhibitors and other hemostatic variables.

OBJECTIVE: To evaluate the effects of two preparations of combined oral contraceptives (COCs), the monophasic COC containing 30 micrograms ethinylestradiol and 75 micrograms gestodene and the triphasic COC containing 30/40/30 ethinylestradiol and 50/70/100 micrograms gestodene on seven natural inhibitors and hemostatic variables. METHOD: Forty-four healthy young women, randomly allocated into two groups (A and B) received the two preparations of COCs, respectively. The following variables were tested in a basic examination and at 1-, 3- and 6-month intervals to evaluate the role of the above preparations on the hemostatic balance of prothrombin time, fibrinogen, antithrombin III activity, protein C activity, total protein S antigen, plasminogen activity and lupus anticoagulant. RESULTS: Group A women presented shorter prothrombin time at 6 months, an increased fibrinogen level at 3 months, no influence on the anticoagulant factors, antithrombin III, protein C and total protein S and an increased plasminogen activity at the 1st and 3rd months of treatment. On the other hand, group B women presented shorter prothrombin time at 3 months, no increase in fibrinogen, a decrease in antithrombin III activity and total protein S activity at the 6th month, whereas protein C and plasminogen activities were found to be increased at the 3rd and 1st, 3rd and 6th month, respectively. CONCLUSIONS: The study did not find differences between the two treatment groups, for the evaluated parameters. This finding is clearly important in the light of the recent epidemiological reports on third-generation COCs. However, differences were found among the various periods of administration of both COCs.