Basic and Clinical Andrology最新文献

Background: Acephalic spermatozoa syndrome is a rare type of teratozoospermia causing male infertility due to detachment of the sperm head and flagellum, which precludes fertilization potential. Although loss-of-function variations in several genes, including TSGA10, have been associated with acephalic spermatozoa syndrome, the genetic cause of many cases remains unclear.

Results: We recruited a Pakistani family with two infertile brothers who suffered from acephalic spermatozoa syndrome. Through whole-exome sequencing (WES) followed by Sanger sequencing, we identified a novel missense variant in TSGA10 (c.1112T > C, p. Leu371Pro), which recessively co-segregated with the acephalic spermatozoa syndrome within this family. Ultrastructural analyses of spermatozoa from the patient revealed that 98% of flagellar cross-sections displayed abnormal axonemal ultrastructure, in addition to the head-flagellum detachment. Real-time quantitative PCR analysis revealed almost no detectable TSAG10 mRNA and western blot analysis also failed to detect TSAG10 protein in patient's sperm samples while TSGA10 expression was clearly detected in control samples. Consistently, immunofluorescence analysis demonstrated the presence of TSGA10 signal in the midpiece of sperm from the control but a complete absence of TSGA10 signal in sperm from the patient.

Conclusion: Altogether, our study identifies a novel TSGA10 pathogenic variant as a cause of acephalic spermatozoa syndrome in this family and provides information regarding the clinical manifestations associated with TSGA10 variants in human.

To the Editor:

The published article by Deng et al. [1] confirms a number of concepts that have been previously published regarding management of men with non-obstructive azoospermia (NOA) associated with AZFc deletions. A critical point of their manuscript is the demonstration of the poor predictive value of fine needle aspiration (FNA) mapping for detection of sperm within the testes of men with NOA. For men with negative FNA maps (no sperm seen), sperm were able to be found and used for assisted reproductive using the more effective microTESE (testicular sperm extraction) approach for sperm retrieval in 65% of men. This raises the question of the clinical utility of FNA mapping in management of men with NOA. In essence, why would you ever use FNA mapping for the management of non-obstructive azoospermia?

Prior meta-analyses of comparative trials have demonstrated that FNA is twofold less likely to find sperm in NOA than standard multi-biopsy approaches, and microTESE is 1.5-fold more effective at finding sperm than the multi-biopsy approach [2]. Given the high effectiveness of microTESE, there appears to be no situation when you would consider the FNA map – as its results would lead to microTESE, whether the map showed sperm or not. As noted in ASRM/AUA guidelines [3], microTESE remains the gold standard – the most effective and arguably safest approach for sperm retrieval – in NOA.

Several other facets of the management of men with AZFc deletions are important to highlight. Overall, the ability to get sperm from these men is quite high, relative to other etiologies of (or even idiopathic) NOA. This manuscript only focused on men with azoospermia. But, of particular importance to consider is the relative frequency of cryptozoospermia in men with AZFc deletions. We have observed that nearly 70% of men with AZFc deletions will have rare sperm in the ejaculate. This has led us to perform a careful semen analysis, including the potential evaluation of several aliquots of the centrifuged semen specimen on the day of planned sperm retrieval to avoid unnecessary surgery for these men who can be effectively treated with ejaculated sperm. We have even found and successfully used sperm from the ejaculate in men with AZFc deletions and prior failed biopsy retrieval of sperm.

In this article, Deng et al. have reported on those men with AZFc deletions and azoospermia, but it is important to consider the possibility of having rare sperm identified in the ejaculate for AZFc-deleted patients. In a recent report [4], we have found that for unselected men with NOA, 9% or more of men with prior documented azoospermia can be found to have rare sperm in the ejaculate – obviating the need for planned surgery – if semen analysis is repeated on the day of sperm retrieval.

Deng et al. are to be congratulated for bringing together data on management of men with AZFc deletions and NOA. These observations are a valuable contributio

Correction: Basic Clin. Androl. 33, 37 (2023)

https://doi.org/10.1186/s12610-023-00212-z

Following publication of the original article [1], the authors reported a typesetting error in the Discussion section. The heading 45,X and 46,XX males was mistakenly written as X45,X and 46,XX males. The publishers apologize for this typesetting error.

The original article [1] has been corrected.

1. Fedder J, Fagerberg C, Jørgensen M, et al. Complete or partial loss of the Y chromosome in an unselected cohort of 865 non-vasectomized, azoospermic men. Basic Clin Androl. 2023;33:37. https://doi.org/10.1186/s12610-023-00212-z.

   Article CAS PubMed PubMed Central Google Scholar

Download references

Authors and Affiliations

1. Centre of Andrology & Fertility Clinic, Odense University Hospital, Kløvervænget 23, 5000, Odense, Denmark

   J. Fedder

2. Department of Clinical Medicine, University of Southern Denmark, Odense, Denmark

   J. Fedder

3. Fertility Clinic, Horsens Hospital, Horsens, Denmark

   J. Fedder & U. B. Knudsen

4. Department of Clinical Genetics, Odense University Hospital, Odense, Denmark

   C. Fagerberg & A. Berglund

5. Department of Clinical Genetics, Lillebaelt Hospital, Vejle, Denmark

   M. W. Jørgensen

6. Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark

   C. H. Gravholt, A. Berglund & A. Skakkebæk

7. Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark

   C. H. Gravholt

8. Department of Clinical Medicine, Aarhus University, Aarhus, Denmark

   C. H. Gravholt, U. B. Knudsen & A. Skakkebæk

9. Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark

   A. Berglund & A. Skakkebæk

1. J. FedderView author publications

   You can also search for this author in PubMed Google Scholar

2. C. FagerbergView author publications

   You can also search for this author in PubMed Google Scholar

3. M. W. JørgensenView author publications

   You can also search for this author in PubMed Google Scholar

4. C. H. GravholtView author publications

   You can also search for this author in PubMed Google Scholar

5. A. BerglundView author publications

   You can also search for this author in PubMed Google Scholar

6. U. B. KnudsenView author publicati

Background: Erectile dysfunction (ED) caused by intraoperative nerve injury is a major complication of pelvic surgery. Adipose-derived stem cells (ADSCs) have presented therapeutic potential in a rat model of bilateral cavernous nerve injury (BCNI), while inadequate in vivo viability has largely limited their application. Nuclear factor-E2-related Factor (Nrf2) is a key transcription factor that regulates cellular anti-oxidative stress. In this work, we investigated the effect of Nrf2 expression regulation on the viability of ADSCs, and explore its repair potential in a BCNI rat model.

Results: The survival time of tert-Butylhydroquinone (tBHQ)-ADSCs in BCNI model increased obviously. In addition, the tBHQ-ADSCs group presented better restoration of major pelvic ganglion (MPG) nerve contents and fibers, better improvement of erectile function, and less penile fibrosis than the other groups. Moreover, the expression of Nrf2 and superoxide dismutase 1 (SOD1) were higher than those of other groups.

Conclusion: Nrf2 could enhance the anti-oxidative stress ability of ADSCs, so as to improve the therapeutic effect of ADSCs on BCNI rat model.

Correction: Basic Clin Androl 33, 25 (2023)

https://doi.org/10.1186/s12610-023-00200-3

Following publication of the original article [1], the authors reported an error in the title of the article. The original title “Mechanism of Shugan Yidan fan, a Chinese herbal formula, in rat model of premature ejaculation” should be replaced with “Mechanism of Shugan Yidan fang, a Chinese herbal formula, in rat model of premature ejaculation”. Principally, it should be Shugan Yidan fang, not Shugan Yidan fan.

We sincerely apologize for the error.

The original article [1] has been corrected.

1. Han Q, Guo J, Wang R, et al. Mechanism of Shugan Yidan fang, a Chinese herbal formula, in rat model of premature ejaculation. Basic Clin Androl. 2023;33:25. https://doi.org/10.1186/s12610-023-00200-3.

   Article PubMed PubMed Central Google Scholar

Download references

Authors and Affiliations

1. Department of Andrology, Dongcheng District, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, 23 Art Gallery Back Street, Beijing, China

   Qiang Han, Renyuan Wang, Hetian Wang & Yin Zeng

2. Department of Andrology, Xiyuan Hospital of China Academy of Traditional Chinese Medicine, Beijing, 100089, China

   Jun Guo, Fu Wang, Qinghe Gao & Jiwei Zhang

3. Department of Endocrinology, Beijing Hospital of Traditional Chinese Medicine, Capital Medical University, Beijing, 100010, China

   Jiangminzi Li

1. Qiang HanView author publications

   You can also search for this author in PubMed Google Scholar

2. Jun GuoView author publications

   You can also search for this author in PubMed Google Scholar

3. Renyuan WangView author publications

   You can also search for this author in PubMed Google Scholar

4. Jiangminzi LiView author publications

   You can also search for this author in PubMed Google Scholar

5. Fu WangView author publications

   You can also search for this author in PubMed Google Scholar

6. Qinghe GaoView author publications

   You can also search for this author in PubMed Google Scholar

7. Jiwei ZhangView author publications

   You can also search for this author in PubMed Google Scholar

8. Hetian WangView author publications

   You can also search for this author in PubMed Google Scholar