WHO laboratory manual for the examination and processing of human semen

https://www.cysticfibrosisjournal.com/article/S1569-1993(11)60014-3/pdf

Recommendations for the classification of diseases as CFTR-related disorders

Klinefelter syndrome, with an incidence of 1:600 male newborns, is the most frequent form of male hypogonadism. However, despite its relatively high frequency, the syndrome is often overlooked. To prevent such oversights, the clinical features should be better characterized, and simple screening tests should be used more frequently. In a cohort of 309 patients suspected of having Klinefelter syndrome, we evaluated the clinical symptoms as well as the diagnostic value of the Barr body test for screening procedures. On the basis of chromosome analysis, 85 patients (group I) were diagnosed as having Klinefelter syndrome, and 224 patients had a 46,XY karyotype (group II). Barr body analysis revealed a specificity of 95% and a sensitivity of 82% for the diagnosis of Klinefelter syndrome. General features (eg, reason for admission, age, age of the parents, body weight, and frequency of maldescended testes) were not different between the groups, except that group I had a higher proportion of patients with a lower educational background. Compared to group II, patients with Klinefelter syndrome were taller (P <.001); had smaller testis volumes (P <.0001), higher follicle-stimulating hormone (FSH) and luteinizing hormone (LH) values; and carried a tendency for less androgenic phenotype and secondary hair distribution. Testosterone, estradiol, sex hormone-binding globulin (SHBG), and prostate-specific antigen (PSA) serum levels as well as prostate volume were not significantly different between the groups. In patients who provided an ejaculate, azoospermia was found in 54% of the patients in group II and in 93% of the patients with Klinefelter syndrome. Although not exclusively characteristic for Klinefelter syndrome, the combination of low testicular volume and azoospermia, together with elevated gonadotropins, is highly indicative for a Klinefelter syndrome and should stimulate further clinical investigations. Barr body analysis provides a quick and reliable screening test, which, however, must be confirmed by karyotyping.

https://onlinelibrary.wiley.com/doi/pdf/10.1002/j.1939-4640.2003.tb02638.x

Clinical and diagnostic features of patients with suspected Klinefelter syndrome.

The 5th edition of WHO Laboratory Manual for the Examination and Processing of Human Semen (2010) represents a comprehensive revision. This article aims to explore the applicability of this manual to andrology laboratories in China mainland in view of sperm count analysis, sperm motility analysis, sperm morphology analysis, sperm function analysis, anti-sperm antibody and seminal plasma biochemical marker analysis, and quality assurance and quality control of semen analysis. The authors deem that its recommendation to the analysis method and lower reference limit of sperm concentration may be a little arbitrary and lack of evidence-based support, that the revised grading sperm motility, the strict criteria and the very low cut-off value of 4% morphologically normal spermatozoa for the evaluation of sperm morphology are not applicable to andrology laboratories in China mainland, that the sperm function markers need to be supplemented, and that the determination methods of anti-sperm antibody and seminal plasma biochemical markers are incompatible with the status of Chinese andrology laboratories. However, its recommended methods for quality assurance and quality control of semen analysis have a significant directive role in China mainland. It is worth to point out that the WHO manual ignored the data obtained from Chinese which accounts for approximate 20% of the world population. Thus, given the importance of the WHO manual, its general applicability should be evaluated in China.

[WHO Laboratory Manual for the Examination and Processing of Human Semen: its applicability to andrology laboratories in China].

The clinical workup of the infertile male with azoospermia aims at determining the aetiology and estimating the chances of finding spermatozoa by testicular sperm extraction (TESE). To establish prognostic criteria, 1583 consecutive patients with azoospermia consulting the Centre of Reproductive Medicine and Andrology, Munster, a tertiary referral centre, between 1976 and 2009 comprising 9.8% of all patients providing a semen sample were included in this retrospective analysis. The frequencies of diagnoses were as follows: 21% genetic causes (14% Klinefelter syndrome, 1% other chromosomal aberrations, 2% Y-chromosomal microdeletions, 1% hypogonadotropic hypogonadism, 3% congenital bilateral absence of the vas deferens), 31% current or former maldescended testes, varicocele, urogenital infections, 15% malignancies, 11% obstructions, 7% endocrine or other chronic diseases and 12% idiopathic azoospermia. Receiver-operating characteristic curves for chances of finding spermatozoa by testicular biopsy were calculated for testicular volume, serum follicle-stimulating hormone (FSH) and the seminal markers α-glucosidase, fructose and zinc where these data were available (N=283). Histograms of the seminal markers comparing data from men with obstructive azoospermia and normozoospermia visualize their discriminating power. Evidence-based threshold values for high chances of positive testicular biopsy serving as surrogate marker for TESE were derived from the subgroup of men with obstructive azoospermia for testicular volume (≥21mL), FSH (≤10U/L) and seminal α-glucosidase (≤18mU/ejaculate). Fructose and zinc could not predict the chances of finding spermatozoa upon biopsy. Based on these three parameters, positive biopsy and presumably TESE success can be quickly and reliably estimated in everyday practice with the colour-coded figures constructed from these data. As a seminal α-glucosidase reference limit of 18mU/ejaculate can also be used to diagnose congenital bilateral absence of the vas deferens, α-glucosidase (rather than seminal fructose) should be determined as part of the clinical routine when counselling patients before testicular biopsy.

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2605.2010.01087.x

Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy.

Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia

Kai Rutscha

Papers

Seminal plasma characteristics as indicators of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in men with obstructive azoospermia