J. Papadimas

Ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions in a 17-year-old man

OBJECTIVE To describe clinical and laboratory features of a patient with 45,X/46,XY mosaic karyotype and Y chromosome microdeletions and to discuss the diagnostic problems in his management. DESIGN Case report. SETTING University department. PATIENT(S) A 17-year-old man with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions. INTERVENTION(S) Testicular ultrasonography, karyotype, open testicular biopsy, polymerase chain reaction (PCR) screening for cystic fibrosis, PCR screening for Y chromosome microdeletions in peripheral blood and testicular tissue, and reverse transcriptase PCR in testicular tissue for Y chromosome microdeletions. MAIN OUTCOME MEASURE(S) Avoidance of dissemination of testicular cancer. RESULT(S) The patient was referred for bilateral orchiectomy. CONCLUSION(S) 45,X/46,XY mosaic karyotype is associated with a broad spectrum of phenotypes that includes female with Turner syndrome, male with mixed gonadal dysgenesis, male pseudohermaphroditism, and apparently normal male. Microdeletions of the long arm of the Y chromosome may be associated with Y chromosomal instability, leading to formation of 45,X cell lines. 45,X/46,XY males carry an increased risk for gonadal tumors and must be followed closely.

Therapeutic approach of immotile cilia syndrome by intracytoplasmic sperm injection: a case report

OBJECTIVE To present a case of immotile cilia syndrome, a very rare cause of male infertility and to evaluate the role of the recently suggested treatment by intracytoplasmic sperm injection (ICSI). DESIGN Case report. SETTING Tertiary-care academic hospital. PATIENT(S) One man with immotile cilia syndrome, showing no motile spermatozoa despite normal morphology and viability. INTERVENTION(S) The patients partner underwent two cycles with IVF of the oocytes achieved by ICSI. MAIN OUTCOME MEASURE(S) Evaluation of ICSI procedure in cases of immotile cilia syndrome. RESULT(S) Thirty-three percent of the oocytes were fertilized and subsequently divided enabling ET in both cycles. CONCLUSION(S) Intracytoplasmic sperm injection seems to represent a promising approach to the problem of infertility in men with immotile cilia syndrome.

Azoospermia: Clinical, Hormonal, and Biochemical Investigation

The aim of this study was to evaluate the clinical, hormonal and biochemical characteristics of infertile men with azoospermia. A total of 187 azoospermic out of 2610 infertile men (7.2%) were studied. Mean testicular volume and basal plasma levels of FSH were the most useful parameters concerning the evaluation of azoospermia. Basal plasma levels of LH and T were useful only in azoospermic men with hypogonadism, whereas plasma PRL levels, semen volume, and seminal plasma fructose levels were not found to be of common use except in selected cases.

Interleukin-1 beta and tumor necrosis factor-alpha in normal/infertile men.

Cytokines play an important role in intercellular communications. Human sperm contains a wide spectrum of cytokines, such as interleukin-1 beta (IL-1 g ) and tumor necrosis factor alpha (TNF- f ). Their effects on semen quality are subject to debate. The aim of this study was to determine concentrations of IL-1 g and TNF- f in normal fertile men and in different groups of male infertility in an attempt to clarify the physiology and suggest possible clinical uses. Sixty-six subfertile male patients with varicocele ( n = 22), infection of accessory genital glands ( n = 14), varicocele plus infection ( n = 4), chronic epididymitis ( n = 8), post-renal transplantation status ( n = 5), idiopathic oligoasthenoteratospermia ( n = 9), cryptorchidism ( n = 1), and homozygous beta-thalassemia ( n = 3) as well as 5 male controls were studied through history, physical examination, spermiograms, plasma basal hormonal levels, and IL-1 g and TNF- f levels in seminal fluid. There was no significant statistical difference regarding IL-1 g and TNF- f among fertile men and subfertile patients of any cause. IL-1 g and TNF- f were in tight positive correlation ( p <. 001). Determination of IL-1 g and TNF- f does not provide useful information in male routine infertility workup. Nevertheless, a better understanding of these mediators in semen of normal men and infertile patients may contribute to a new approach to the management of male infertility.

Effect of Follicular Fluid on the Kinetics of Human Sperm Acrosome Reaction in Vitro

The purpose of the present study was to evaluate the kinetics of human sperm acrosome reaction in vitro using the triple stain technique. Acrosome reaction was studied in sperm samples from 16 fertile men 2, 6, and 9 h after ejaculation, following incubation in culture medium (CM; Hams F-10), with a mixture of CM and follicular fluid (FF), or with FF only. Incubation of sperm samples without the influence of any medium served as control. The highest proportion of living acrosome-reacted sperm after a 2-h incubation period occurred in samples incubated with FF (18%), followed by samples incubated with the mixture (15.2%), and then with CM (11.8%). The proportion of living sperm that had undergone the acrosome reaction in the control group was significantly lower (5.7%, p < 0.05). After 6 h of incubation, live acrosome-reacted sperm in FF had increased to 39%, in the mixture to 35.5%, and in CM to 30.5%, whereas in the control group the increase was only 6.3% (p < 0.05). After 9 h of incubation, the percentage of living reacted sperm showed a decline compared with the percentage at 6 h. This decline was greater in samples incubated with FF (from 39 to 19.8%) than in samples incubated with the mixture (from 35.5 to 23.6%). Samples incubated in CM only showed a small decrease from 30.5 to 28.4%, while in the control group this percentage decreased from 6.3 to 2.3%. In conclusion, incubation of sperm in suitable media favorably influences the acrosome reaction, inducing an increase in the percentage of live acrosome-reacted sperm.(ABSTRACT TRUNCATED AT 250 WORDS)

Seminal Plasma Zinc and Magnesium in Infertile Men

Levels of zinc and magnesium were estimated in the seminal plasma of 83 men having various infertility problems. There was a wide overlapping of Zn and Mg mean values among the groups of normal and infertile men, a significant reduction in Mg mean value (but not Zn) only in the group with infection of the accessory genital glands, a very high positive correlation between Zn and Mg mean values in all groups, and a high positive correlation between either Zn or Mg and acid phosphatase (but neither fructose nor sperm count and forward progression) in men with infection, but not in the other groups. Measurement of Mg in seminal plasma can, in combination with other parameters of prostatic function, give useful information regarding male infertility problems, particularly in the case of infection of the accessory genital glands.

Evaluation of Hamilton-Thorn Automated Semen Analysis System

Sperm concentration and percentage motility values generated by the HT M-2030 system (CASA) were compared with those obtained by subjective semen analysis (SSA). Three calibrations arbitrarily designated as A, M, and D for gates and discriminators and three calibrations arbitrarily designated LI, MI, and HI for default pixel count (DPC) and default intensity (DI) were evaluated. The best correlation between CASA and SSA was observed utilizing M calibration (n = 114) with which sperm concentration was +0.3 x 10(6)/mL (r = .96) and motility was -6.3% (r = .89) compared to the values obtained by SSA. It was found that 35.9% of sperm concentration values and 34.2% of sperm motility values were within 10% of the values obtained by SSA. When sperm concentration was between 50 and 100 x 10(6)/mL the difference in motility was reduced (-3.2%) while the difference in sperm concentration was reversed (-2.6 x 10(6)/mL). LI calibration (DPC = 4, DI = 86) gave acceptable results with M calibration for sperm concentration (+2.1 x 10(6)/mL) and motility (-6.9%) compared to the values obtained by SSA. In the presence of sperm clumping, the difference between CASA and SSA was reversed for sperm concentration (+0.56 x 10(6)/mL for normal samples vs. -2.2 x 10(6)/mL for samples with clumping) and was reduced for sperm motility (-7.14% vs. -4.55%, respectively). HT M-2030 under proper calibration can be used as a rapid, objective, and reliable alternative to conventional semen analysis in routine and for research purposes.

Evaluation of different ovarian stimulation protocols for in vitro fertilization

In this study we evaluated retrospectively the efficacy of five different ovarian stimulation protocols in an in vitro fertilization program, in which 512 women were involved. Ovulation was induced by the following protocols: group I (271 cycles): buserelin short protocol (1 mg/day, intranasally) with human menopausal gonadotropin/human chorionic gonadotropin (hMG/hCG); group II (45 cycles): buserelin (short protocol) with pure follicle stimulating hormone (p-FSH)/hMG/hCG; group III (24 cycles): clomiphene citrate (100 mg/day) with hMG/hCG; group IV (122 cycles): hMG (3 ampules/day) and hCG; group V (113 cycles): hMG/hCG and prednisolone (7.5 mg/day) after cycle programming with oral contraceptives. The lowest cancellation rate (3.3%) was noted in group I, followed by group V (9.7%). The highest number of follicles was observed in groups I (8.3 +/- 0.3; mean +/- SEM) and V (7.8 +/- 0.5). Also, more oocytes were retrieved in group I (7.2 +/- 0.3, p < 0.001), which were of good quality based on oocyte maturity as well as on the fertilization rate, and more embryos (4.5 +/- 0.3, p < 0.05) were developed. The correlation between estradiol and the total follicular volume on the day of hCG administration was also examined in the five groups. The best correlation (r = 0.6502) was found in group I, followed by group V (r = 0.5810). Significant differences were observed in the five groups with regard to the number of hMG ampules administered (p < 0.0001, F = 15.393) and the stimulation days (p < 0.0001, F = 35.32). Sixty-six clinical pregnancies were achieved: 37 (17.5%) in group I, seven (25.9%) in group II, one (10%) in group III, ten (15.6%) in group IV and 11 (15.5%) in group V (differences were not statistically significant). In conclusion, all five protocols were satisfactory in ovarian stimulation for in vitro fertilization, and gonadotropin releasing hormone (GnRH) analogs seemed to be more advantageous by reducing the cancellation rate, enhancing the number of oocytes retrieved and embryos developed and by improving the pregnancy rates.

Intratubular germ cell neoplasia in a man with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions.

We report the case of a 17-yr-old male with ambiguous genitalia, 45,X/46,XY mosaic karyotype, and Y chromosome microdeletions. The patient underwent a testicular biopsy at the age of 6 with normal findings. A second biopsy at the age of 17 established the diagnosis of intratubular germ cell neoplasia (ITGCN), which was treated with bilateral orchidectomy. This case report deals with three important issues regarding ITGCN: First, although a prepubertal biopsy can be performed in order to provide evidence for future fertility, it is very unreliable for making a diagnosis of ITGCN. Second, because ITGCN tends to be a generalized procedure that affects both testes in a uniform pattern, a small number of biopsies, even a single one, could be adequate for diagnostic purposes in the majority of cases. Third, although the population that requires screening for ITGCN remains controversial, the early postpubertal period could be the optimum time for a testicular biopsy.

Congenital obstructive azoospermia in a man with Marfan syndrome.

OBJECTIVE To present a case of Marfan syndrome and concurrent congenital obstructive azoospermia. DESIGN Case report. SETTING Tertiary-care academic hospital. PATIENT(S) A man with Marfan syndrome and obstructive azoospermia. INTERVENTION(S) The patient was evaluated for azoospermia that was proved to be due to congenital absence of large segments of vas deferens and epididymis bilaterally. MAIN OUTCOME MEASURE(S) Evaluation for testicular sperm extraction and ICSI procedure. RESULT(S) The patient is a candidate for testicular sperm extraction and ICSI. CONCLUSION(S) The Marfan syndrome and azoospermia may be associated in sporadic cases.