Spontaneous resolution of cystic hygroma in 47,XYY fetus

Introduction 47,XYY karyotype occurs in 1 out of 1,000 male births. Physical phenotype is normal, with tall stature by adolescence. Prenatal diagnosis of the 47,XYY syndrome is usually fortuitous. Some cases are being diagnosed when prenatal karyotyping is done for the detection of Down syndrome and other major aneuploidies. Some cases are diagnosed when prenatal ultrasonographic findings of fetal abnormalities are found. Herein, we report a case of 47,XYY after prenatal finding of fetal cystic hygroma with spontaneous resolution. Case report A 19-year-old primigravid woman presented for antenatal care at the 13th week of pregnancy. She used oral isotretinoin, being unaware of pregnancy, for a treatment of acne during the first 4 weeks of gestation. Ultrasonogram was performed due to first trimester screening and the history of isotretinoin exposure. The result revealed a single viable fetus compatible with a 13-week pregnancy and a posterior cervical cystic hygroma. No other structural anomalies were noted. An amniocentesis was performed for prenatal chromosome analysis and a 47,XYY karyotype was found. Repeated ultrasonogram at 23-week gestation showed that the cystic hygroma had spontaneously disappeared. She delivered a normal appearing male infant by spontaneous vaginal delivery at 40 weeks. The maternal and neonatal outcomes were uneventful. Conclusion Fetal cystic hygroma can be associated with abnormal karyotype, such as 47,XYY. Without hydrops fetalis, this may be ended with a normal outcome. Therefore, an antenatal karyotype determination should be offered to any woman whose fetus has cystic hygroma, even to those with spontaneous resolution.     

Spermatid count as a predictor of response to FSH therapy

This study evaluated the predictive power of spermatid count and cytology for assisted reproduction outcome after FSH therapy. A total of 174 men with severe oligozoospermia and normal plasma FSH concentration underwent semen analysis including spermatid count, TUNEL test, FISH analysis for sperm aneuploidies and testicular fine-needle aspiration cytology. Ninety-two men with hypospermatogenesis received FSH therapy for 3 months and 82 patients with maturative disturbance or partial obstruction served as controls. Semen was analysed at baseline, after FSH therapy and after 3- and 9-month follow up, and pregnancies were recorded. Subjects not reaching pregnancy at 3-month follow up were recommended assisted reproduction treatment. Spermatid count was related to testicular cytology: spermatid concentrations <0.01, 0.01–0.3 and >0.3 × 10⁶/ml were predictive of partial obstruction, hypospermatogenesis and maturative disturbance. FSH therapy patients showed increases in sperm number and motility (both P < 0.001), allowing some couples to undergo intrauterine insemination instead of IVF. Cumulative pregnancy rate after 12 months was higher with FSH therapy (44.6%) than without (22.0%; P = 0.002). FSH therapy improved pregnancy rate and sometimes allowed less invasive assisted reproduction treatment in well-selected patients. Spermatid count could represent a new parameter to predict response to FSH therapy.One-hundred seventy-four patients with severe reduction of sperm count and normal sex hormones plasma levels underwent semen analysis with spermatid count, and testicular fine needle aspiration cytologiy (FNAC). Ninety-two men infertile men with reduced sperm production (hypospermatogenesis) were treated with highly purified urofollitropin and 82 patients with sperm maturative defects or partial obstruction of the seminal tract served as controls. After treatment and after the following 3 and 9 months all subjects performed a new semen analysis and pregnancies were recorded. Subjects who had not reached spontaneous pregnancy were suggested to undergo assisted reproductive techniques (ARTs). Spermatid count was strongly related to testicular cytology: spermatid concentrations were predictive of partial obstruction, hypospermatogenesis and maturative disturbance respectively. Treated patients showed significant increase in sperm number and motility allowing some couples to undergo easier and less invasive assisted reproductive techniques. The number of pregnancies was significantly higher among treated (44.6%) than untreated couples (22.0%). Our data confirmed that FSH treatment can induce a significant improvemet of pergnancy rate and sometimes allows less invasive ARTs use in well selected severe oligozoospermic patients. Moreover, we suggest that spermatid count can be useful to define tubular status and could represent a new parameter to predict response to FSH therapy.     

Male infertility in Northeast China: a cytogenetic study of 135 patients with non-obstructive azoospermia and severe oligozoospermia

Purposes  

To detect the frequency and types of chromosomal anomalies with non-obstructive azoospermia and severe oligozoospermia in Northeast China, and to compare the frequencies with other regions of China and the world. To investigate the general characteristics of this population.     

Clinical background affecting pregnancy outcome following local endometrial injury in infertile patients with repeated implantation failure

Local endometrial injury (LEI) has been performed as a promising medical intervention to improve the pregnancy outcome in infertile women suffering from repeated implantation failure (RIF) in in vitro fertilization-embryo transfer cycles. The effect of LEI, however, remains controversial. The aim of this retrospective study was to identify the subgroups of patients with RIF who benefit from LEI. We compared the clinical parameters between the patients who had had a clinical pregnancy in the subsequent embryo transfer cycle following the LEI cycle (LEI-CP group, n?=?94) and those who had resulted in negative pregnancy test (LEI-NP group, n?=?114). The female age, basal follicle stimulating hormone concentration, number of past oocyte pickup cycles, and embryos/blastocysts transferred in the past three RIF cycles were significantly (p?p?=?0.0059) higher in the LEI-CP group than in the LEI-NP group. These findings suggest that LEI is most effective to improve the pregnancy outcome in patients undergoing RIF with uncompromised ovarian reserve, particularly in those with polycystic ovarian syndrome.     

Effect of cigarette smoking on levels of seminal oxidative stress in infertile men: a prospective study

OBJECTIVE: To investigate levels of seminal oxidative stress (OS) and sperm quality in a group of infertile men with a history of cigarette smoking.DESIGN: A prospective clinical study.SETTING: Male infertility clinic, Urological Institute, the Cleveland Clinic Foundation, Cleveland, Ohio.PATIENT(S): Infertile men who smoked cigarettes (n = 20), infertile men who were nonsmokers (n = 32), and healthy nonsmoking donors (n = 13).INTERVENTION(S): Genital examination, standard semen analysis, sperm DNA damage.MAIN OUTCOME MEASURE(S): Levels of seminal reactive oxygen species (ROS) and total antioxidant capacity (TAC) measured by a chemiluminescence assay and seminal OS assessed by calculating a ROS-TAC score. Sperm DNA damage was measured by sperm chromatin structure assay.RESULT(S): Smoking was associated with a 48% increase in seminal leukocyte concentrations (P<.0001), a 107% increase in ROS levels (P=.001), and a 10-point decrease in ROS-TAC scores (P=.003). Differences in standard sperm variables and DNA damage indices between the infertile smokers and infertile nonsmokers were not statistically significant.CONCLUSION(S): Infertile men who smoke cigarettes have higher levels of seminal OS than infertile nonsmokers. Given the potential adverse effects of seminal OS on fertility, physicians should advise infertile men who smoke cigarettes to quit.     

A comparative study of Y chromosome microdeletions in infertile males from two Chinese populations

Purpose : To compare the prevalence and type of Y-microdeletions in Hong Kong and Shanghai men with severe male-factor infertility. Methods : Seven Y-linked sequence tagged site (STS) primers and seven gene-specific primers were screened in 293 infertile males (139 from Hong Kong and 154 from Shanghai) and 161 fertile men (61 from Hong Kong and 100 from Shanghai). Serum FSH, LH, and testosterone levels were also measured in these men. Results : The incidence of Yq microdeletions in nonobstructive azoospermic men from Hong Kong (8.5%) and Shanghai (6%) was similar. Yq microdeletions were observed in severe oligospermic patients (8.5%) from Hong Kong but not from Shanghai. Among the 9 Hong Kong men with Y-microdeletions, 8 had AZFc deletion and one had AZFb deletion. In contrast, 6 of 9 men from Shanghai with Y-microdeletions had AZFb deletion. The incidence of AZFb deletion among Y-microdeleted men was statistically different between the two populations. Two of the men with AZFb deletion also had AZFa and AZFc deletions. Conclusions : Regional variations in the type of Y-microdeletion existed between Hong Kong and Shanghai infertile males.     

ICSI outcome is significantly better with testicular spermatozoa in patients with necrozoospermia: a retrospective study

Objective: To determine whether intracytoplasmic sperm injection (ICSI) outcome with testicular sperm is superior to that of ejaculated sperm in men with incomplete necrozoospermia, defined as sperm viability ≥5 to ≤45%.

Study design: Retrospective study at a Reproductive Medicine Center of a tertiary referral hospital. A total of 231 couples with male infertility due to incomplete necrozoospermia underwent 342 ICSI cycles with freshly ejaculated sperm (ICSI-ejaculated) and 182 cycles with testicular sperm (ICSI-TESE).

Results: Overall 1624 MII oocytes were injected in the ICSI-ejaculated group with a fertilisation rate of 60.8%, while in ICSI- TESE cycles the fertilisation rate was 59.6% in 874 MII oocytes. The cleavage rate was higher in ICSI-ejaculated cycles than in ICSI-TESE cycles (96.3% versus 92.9%; p?=?0.004). However, the pregnancy and implantation rates per cycle were significantly higher in the ICSI-TESE group (67/182, 36.8% versus 68/342, 19.9% (p?=?0.0001); and 23.7% versus 12.7% (p?=?0.0001), respectively). The miscarriage rate was similar (ICSI-ejaculated 26.5% versus ICSI-TESE 17.9%, p?=?0.301). Live birth rate per cycle in the ICSI-ejaculated group was significantly lower than in the ICSI-TESE (13.7% versus 28.6%, p?=?0.0001).

Conclusions: In cases of persistent necrozoospermia, testicular sperm should be favoured over ejaculated sperm. These data call for more research to understand the pathophysiology of refractory necrozoospermia.     

Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review

OBJECTIVE: To summarize the existing experience with the use and success rate of assisted reproductive techniques (ART), in particular testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), in Klinefelter patients. DESIGN: A systematic review of the literature, including all published case reports to date. PATIENT(S): Thirty-nine reported successful pregnancies fathered by nonmosaic Klinefelter patients. MAIN OUTCOME MEASURE(S): The overall risk of transmitting a chromosomal abnormality to the offspring of Klinefelter patients. RESULT(S): In nonmosaic and mosaic Klinefelter patients, chromosomally normal sperm cells can be extracted from testicular tissue and used for ICSI. CONCLUSION(S): The application of ART to Klinefelter patients can be recommended as a method to achieve reproduction in this selected infertility patient cohort.     

Coenzyme Q(10) supplementation in infertile men with idiopathic asthenozoospermia: an open, uncontrolled pilot study

OBJECTIVE: To clarify a potential therapeutic role of coenzyme Q(10) (CoQ(10)) in infertile men with idiopathic asthenozoospermia. DESIGN: Open, uncontrolled pilot study. PATIENT(S): Infertile men with idiopathic asthenozoospermia. INTERVENTION(S): CoQ(10) was administered orally; semen samples were collected at baseline and after 6 months of therapy. MAIN OUTCOME MEASURE (S): Semen kinetic parameters, including computer-assisted sperm data and CoQ(10) and phosphatidylcholine levels. RESULT(S): CoQ(10) levels increased significantly in seminal plasma and in sperm cells after treatment. Phosphatidylcholine levels also increased. A significant increase was also found in sperm cell motility as confirmed by computer-assisted analysis. A positive dependence (using the Cramer's index of association) was evident among the relative variations, baseline and after treatment, of seminal plasma or intracellular CoQ(10) content and computer-determined kinetic parameters. CONCLUSION(S): The exogenous administration of CoQ(10) may play a positive role in the treatment of asthenozoospermia. This is probably the result of its role in mitochondrial bioenergetics and its antioxidant properties.     

Reactive oxygen species measured in the unprocessed semen samples of 715 infertile patients

Purpose

To determine whether reactive oxygen species (ROS ) in semen samples could be measured with the Monolight^? 3010 Luminometer.

Methods

Using the Monolight^? 3010 Luminometer, the ROS was measured in the unprocessed semen samples of infertile male patients, as well as the luminescence of 190 semen samples. The samples were classified as “luminescence‐detectable” (n = 89) and “luminescence‐undetectable” (n = 101). Thereafter, the luminescence of the semen samples that had been obtained from the 715 infertile patients was measured and compared by using Sperm Motility Analyzing System measurements. Moreover, in order to investigate the ROS measurement consistency, the chemiluminescence values of 84 samples were measured concurrently by using the Monolight^? 3010 Luminometer and the 1251 Luminometer^?.

Results

The semen volume, sperm motility, and progressive motility of the samples were significantly higher in the luminescence‐undetectable samples. The sperm motility, straight‐line velocity, curvilinear velocity, mean amplitude head displacement, beat cross frequency, and progressive motility showed an inverse correlation with the logarithmic‐transformed luminescence level in the luminescence‐detected samples. The integrated chemiluminescence levels in the 84 samples were correlated.

Conclusion

The substance that was measured in the unprocessed semen with the Monolight^? 3010 Luminometer and stimulated chemiluminescence is ROS .