Bilateral Testicular Hypoplasia Research Articles

Reproductive system status and the algorithm to solve fertility issues in men with cystic fibrosis

Rationale: Cystic fibrosis (CF) is a common hereditary disease related to the CFTR gene mutations and characterized by progression and multiple system involvement (primarily of the digestive tract and / or pulmonary system). Most men with CF are infertile. Due to new therapeutic options, the life expectancy of CF patients has increased, with reproductive issues becoming relevant.Aim: A multifaceted assessment of the reproductive system status and fertility in male patients with CF and improvement of the strategies to resolve their reproduction issues.Materials and methods: This cohort prospective study was performed 2006 to 2018 and included 81 unrelated Russian male patients with confirmed CF, aged from 15 to 69 years (mean age 25.6 ± 7.9 years). Forty two (42) patients had pancreatic sufficient and 39 pancreatic insufficient CF. The patients underwent clinical, andrological, laboratory and instrumental examination (scrotal ultrasonography, standard and biochemical semen examination and hormone levels).Results: Reproductive disorders and semen abnormalities found in CF patients varied from preserved fertility to infertility. The following andrological abnormalities were found: delayed puberty (48%), urological disorders (26%), uni- or bilateral testicular hypoplasia (42%), diffuse lesions and cysts of the epididymis (70%), diffuse lesions /calcifications of the prostate (50%), and decreased testosterone levels (24.2%). Azoospermia was diagnosed in 87.5% of the patients, “moderate” or “mild” pathozoospermia (oligo-/astheno-/teratozoospermia) in 11.1%, and normozoospermia in 1.4% of the patients. There were significant differences between the patients with pancreatic sufficient and pancreatic insufficient CF in the ejaculate volume (1.4 ± 1.5 ml vs. 0.6 ± 0.5 ml; р = 0.006), ejaculate pH (6.7 ± 0.7 vs. 6.1 ± 0.4; р < 0.0001), and sperm concentration (19.6 ± 56.0 Mio/mL vs. 0.001 ± 0.008 Mio/ mL; p = 0.011). Normal ejaculate volume was more frequent (21.1% vs 14.7%; p > 0.05) in patients under the age of 25. No bilateral obstruction of vas deferens was found in 71.4% patients with 3849+10kbC>T mutation. There was a significant difference (p < 0.00001) in the frequency of 3849+10kbC>T mutation between the patients with vas deferens obstruction (9.5%) and without it (93.8%). We developed an algorithm to resolve infertility issues (including assisted reproductive technologies) in male CF patients depending on their fertility / presence and type of pathozoospermia and some other factors that may influence the conception and CF risk in the offspring. We also suggested practical recommendations for the andrological assessment, maintenance of reproductive health, and planning of childbirth in these patients.Conclusion: Male CF patients require a multifaceted assessment of their reproductive system. The prognosis of their reproductive functions, the strategy to maintain their reproductive health and making a decision on childbirth depends on the CF type, the CFTR genotype, the results of semen analysis, and the patient’s age. Pancreatic sufficient CF type, 3849+10kbС>T mutation of the CFTR gene and younger age are favorable factors for potential maintenance of vas deferens patency and male fertility in CF patients.

Gross testicular abnormalities in indigenous breeds of bulls in Eastern Ethiopia

Objective: This study was conducted to assess the prevalence of different types of gross testicular disorders in bulls, and to evaluate the associations with sampling year, age, and body condition. Materials and methods: In this study, a total of 398 apparently healthy bulls were randomly selected that were brought from different parts of eastern Ethiopia to the Haramaya University abattoir for slaughtering during the period from June 2014 to September 2016. Ante- and post-mortem examinations of the bulls were employed. Visual inspection, palpation, serial and systematic dissections into the parenchyma of the testes and scrotum were performed to determine the presence and the extent of gross pathological changes. Results: Out of 398 bulls, 209(52.5%) were affected by one or more gross testicular abnormalities of unidentified causes. Bilateral testicular hypoplasia was the most prevalent (9.8%; n=39/398) testicular abnormality, followed by unilateral testicular hypoplasia (9%; n=36/398), testicular hematoma (9%; n=36/398), orchitis (8.3%; n=33/398), testicular degeneration (6.5%; n=26/398), scrotal wound (6.3%; n=25/398) and epididymitis (2.5%; n=10/398). Unilateral cryptorchidism was the least prevalent (1%; n=4/398). Age and body condition did not affect the prevalence of any abnormality (P>0.05) except in scrotal wound which was significantly varied among body condition categories (P<0.05). Conclusion: This study reveals that the incidence of gross testicular abnormalities was 52.5% in bulls. Thus, attention should be given to reproductive management of bulls in Ethiopia. http://doi.org/10.5455/javar.2017.d201 XML PubReader

Incidence of gross pathological conditions of the reproductive organs in bulls

A study was conducted from December 2014 to April 2016 on 980 bulls slaughtered at Gondar Elfora and Harar abattoirs with the objectives of identifying types of gross pathological conditions of the reproductive tract, determining prevalence of the abnormalities and examining the associations between location, age, and body condition and pathological conditions of the reproductive tract. The study employed an ante and post mortem examinations. Out of 980 bulls examined 466(47.6%) were affected by one or more gross abnormalities of the reproductive organs. Abnormalities identified during ante mortem examination were scrotal wound (SW) 52(5.3%), scrotal torsion (ST) 29(3%) and urethral obstruction (UO) 22(2.2%). On post mortem examination testicular degeneration (TD) 74(7.6%) was the most prevalent followed by orchitis (ORC) 70(7.1%), testicular hematoma (TH) 69(7%), unilateral testicular hypoplasia (UTH) 64(6.5%), bilateral testicular hypoplasia (BTH) 63(6.4%), epididimitis (EP) 20(2%) and unilateral cryptorchidism (UCR) 3(0.3%). The prevalence of SW and ST significantly varied with location and age of the bulls (P 0.05). Significantly (X2=24.79; P=0.00) higher prevalence of orchitis was recorded in bulls slaughtered in Harar 47(12.2%) compared to bulls slaughtered in Gondar Elfora abattoir 23(3.9%). Adult 45(8.2%) bulls had significantly (X2=6.32; P=0.01) higher prevalence of BTH compared to young ones 18(4.2%) and bulls slaughtered in Harar 58(15.1%) had significantly (X2=79.01; P=0.00) higher prevalence of BTH compared to bulls slaughtered in Gondar Elfora abattoir 5(0.8%). These gross pathological conditions could cause sub-fertility, infertility or sterility in bulls which might results in economic losses to the farmers.

Pathological conditions associated with the male reproductive tract of the sahel bucks.

The study of pathological conditions of the male reproductive system is paramount to understanding reproductive inefficiency in the Sahel goat. In this study, 1048 Sahel bucks presented for slaughter at the Maiduguri metropolitan abattoir were evaluated for the presence of various pathological abnormalities of the reproductive system. A total incidence of 15.08% was recorded for various pathological conditions, with testicular, penile, and scrotal conditions having incidences of 7.82%, 4.80 and 2.50%, respectively. Bilateral testicular hypoplasia and atrophy and unilateral cryptorchidism accounted for incidences of 4.10%, 2.38%, and 1.24%, respectively, while paraphimosis and scrotal laceration had incidences of 1.72% and 1.05%, respectively. Age specific incidence of pathological conditions were not significant (P > 0.05) between bucks aged <1–1.5 and 2–2.5 years. However, bucks aged 3–3.5 year a had lower (P < 0.05) incidence of pathological conditions than other age groups. Histopathological evidence of inflammation, degeneration, and atrophy was observed in the testes, while inflammatory changes were observed in the prepuce.

ELOVL2 controls the level of n-6 28:5 and 30:5 fatty acids in testis, a prerequisite for male fertility and sperm maturation in mice

ELOVL2 is a member of the mammalian microsomal ELOVL fatty acid enzyme family, involved in the elongation of very long-chain fatty acids including PUFAs required for various cellular functions in mammals. Here, we used ELOVL2-ablated (Elovl2(-/-)) mice to show that the PUFAs with 24-30 carbon atoms of the ω-6 family in testis are indispensable for normal sperm formation and fertility in male mice. The lack of Elovl2 was associated with a complete arrest of spermatogenesis, with seminiferous tubules displaying only spermatogonia and primary spermatocytes without further germinal cells. Furthermore, based on acyl-CoA profiling, heterozygous Elovl2(+/-) male mice exhibited haploinsufficiency, with reduced levels of C28:5 and C30:5n-6 PUFAs, which gave rise to impaired formation and function of haploid spermatides. These new insights reveal a novel mechanism involving ELOVL2-derived PUFAs in mammals and previously unrecognized roles for C28 and C30 n-6 PUFAs in male fertility. In accordance with the function suggested for ELOVL2, the Elovl2(-/-) mice show distorted levels of serum C20 and C22 PUFAs from both the n-3 and the n-6 series. However, dietary supplementation with C22:6n-3 could not restore male fertility to Elovl2(+/-) mice, suggesting that the changes in n-6 fatty acid composition seen in the testis of the Elovl2(+/-) mice, cannot be compensated by increased C22:6n-3 content.

Role of Polycomb Group Protein Cbx2/M33 in Meiosis Onset and Maintenance of Chromosome Stability in the Mammalian Germline

Polycomb group proteins (PcG) are major epigenetic regulators, essential for establishing heritable expression patterns of developmental control genes. The mouse PcG family member M33/Cbx2 (Chromobox homolog protein 2) is a component of the Polycomb-Repressive Complex 1 (PRC1). Targeted deletion of Cbx2/M33 in mice results in homeotic transformations of the axial skeleton, growth retardation and male-to-female sex reversal. In this study, we tested whether Cbx2 is involved in the control of chromatin remodeling processes during meiosis. Our analysis revealed sex reversal in 28.6% of XY−/− embryos, in which a hypoplastic testis and a contralateral ovary were observed in close proximity to the kidney, while the remaining male mutant fetuses exhibited bilateral testicular hypoplasia. Notably, germ cells recovered from Cbx2(XY−/−) testes on day 18.5 of fetal development exhibited premature meiosis onset with synaptonemal complex formation suggesting a role for Cbx2 in the control of meiotic entry in male germ cells. Mutant females exhibited small ovaries with significant germ cell loss and a high proportion of oocytes with abnormal synapsis and non-homologous interactions at the pachytene stage as well as formation of univalents at diplotene. These defects were associated with failure to resolve DNA double strand breaks marked by persistent γH2AX and Rad51 foci at the late pachytene stage. Importantly, two factors required for meiotic silencing of asynapsed chromatin, ubiquitinated histone H2A (ubH2A) and the chromatin remodeling protein BRCA1, co-localized with fully synapsed chromosome axes in the majority of Cbx2(−/−) oocytes. These results provide novel evidence that Cbx2 plays a critical and previously unrecognized role in germ cell viability, meiosis onset and homologous chromosome synapsis in the mammalian germline.

Bilateral testicular hypoplasia among mature Sahel bucks in Nigeria

Among 1608 Sahel goat bucks presented for slaughter at the Maiduguri Metropolitan abattoir in March-April 2007, 65.7% had plain white or black-white coat colour, and 91.2% were aged >1.5-3.0 years with mean body weights of 15.6-25.7 kg. Twenty-two (1.4%) of the mature bucks, aged 1.9 ± 0.3 years and weighing 20.6 ± 3.5 kg, had bilateral small hypoplastic testes that were symmetric, approximately 7 times smaller in weight, with a 2-fold reduction in longitudinal length and mid-circumference than the full-sized normal testes. The epididymes were also reduced in size as the testes. Histologically, the seminiferous tubules and caudal epididymides showed no evidence of spermatogenesis and the basement membranes of the seminiferous tubules were smooth. This is first report of bilateral testicular hypoplasia among Sahel goats in Nigeria.

Testicular Hypoplasia in a Bull Persistently Infected with Bovine Diarrhoea Virus

A bull aged 16 months with bilateral testicular hypoplasia and azoospermia was persistently infected with bovine viral diarrhoea virus (BVDV). Viral antigen was detected in serum and semen by ELISA, but the animal was serologically negative. After slaughter, the genital tract was examined histopathologically and by immunohistochemistry, including double immunolabelling with BVDV antibody and either S-100 antibody (for Sertoli cells) or ferritin antibody (for Leydig cells). The seminiferous tubules of both testes were lined by a single layer of Sertoli cells and the germinal epithelium was completely absent except for a few remaining spermatogonia. BVDV antigen was demonstrated (1) in the media of arterial vessel walls of the testis, epididymis, urethra, prostate, and vesicular and bulbourethral glands, (2) in epithelial cells of the ductus epididymidis, the accessory glands and the urethra, and (3) in the testis, mainly in Sertoli cells and to a lesser extent in the spermatogonia that remained, but not in Leydig cells. The testicular hypoplasia was possibly linked to the BVDV infection.

A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome

The authors report a patient affected with mental retardation, dysarthria, bilateral testicular hypoplasia and extensive ulcers of the lower limbs. Clinical study and laboratory tests revealed 48,XXYY syndrome. The authors confirm the importance of differential diagnosis from Klinefelter syndrome, illustrating the parameters and the pathology of both syndromes. They discuss the hypotheses concerning the pathogenesis of the ulcerations, and stress the importance of clinical and genetic characterization, leading to a differentiated prognosis of social capacity and prospect of working.

Post mortem studies on infertile buffalo bulls: testicular histology.

Testicular tissues of 22 buffalo bulls (Bubalus bubalis) which suffered from three types of infertility were examined histologically. Nine bulls with no sexual libido showed underdeveloped seminiferous tubules; five of them also had various forms of germinal tissue hypoplasia (bilaterally complete, partial or incomplete) and in the other four the seminiferous tubules showed developed layers of germinal epithelium but no complete spermiogenesis. Among 11 bulls which had always produced poor quality semen one suffered from incomplete bilateral testicular hypoplasia and two had simple testicular degeneration; five showed marked testicular degeneration associated with fibrosis of intertubular spaces, and in three there was intertubular fibrosis and tubular stasis. In two bulls in which the quality of semen had deteriorated one showed bilateral partial testicular hypoplasia and the other had bilateral testicular degeneration with unilateral intertubular fibrosis and tubular stasis.

Congenital Abnormalities of the Male Genital Organs in the Newly Established TW Rat Strain

Abstract A newly established rat strain named TW showed congenital abnormalities in the male genital organs at about 47% incidence. These abnormalities included the unilateral or bilateral testicular hypoplasia accompanied with ipsilateral aplasia of the epididymis, ductus deferens and gland of ductus deferens. Most commonly these accessories were completely absent but in some cases the lack was partial. The other accessories such as the seminal vesicle, coagulating gland, and prostate were normal. The female genital organs were normal. The genetical analysis revealed that these defects are transmitted by multiple genes with an incomplete penetrace and a threshold effect. The TW rat provides a useful model for studying the developmental process of the male genital system.

Hormonal and histological studies in a 61XXY bull.

A Friesian bull with bilateral testicular hypoplasia was diagnosed as having a pure 61XXY karyotype. The bull displayed normal sexual behaviour but was azoospermic. At 17 months, the animal's peripheral plasma androgen levels appeared to be lower than normal, and one testicle removed one month later showed small seminiferous tubules totally lacking in germ cells. The Leydig cell volume of this testis was well within the normal range but the tubule length was rather short. At 33 months of age an increase in peripheral plasma androgen levels was noted. In the remaining testis there had been both a considerable rise in Leydig cell volume and a fall in tubule length. These findings may be explained by the interaction of three factors; the effects of the abnormal karyotype, the increased maturity of the animal at 33 months and the reaction of the remaining testis to unilateral castration.

A case of bilateral testicular hypoplasia in the goat.

A case of bilateral testicular hypoplasia in the goat.