Biallelic loss-of-function variants of DNAH7 cause male infertility associated with asthenozoospermia in humans.

Although variants in DNAH family genes have been suggested as a main contributor to asthenozoospermia in humans, the role of DNAH7 on male fertility remains largely unexplored. In this study, loss-of-function variants in DNAH7 were identified in two unrelated infertile men with asthenozoospermia through whole exome sequencing, including compound heterozygous variants c.9702_9705del (p.

Loss of Different Domains of TDRD12 Leads to Distinct Male Infertility-Related Phenotypes.

Tdrd12 is known to play an important role in spermatogenesis in mice. However, evidence linking TDRD12 mutations to male azoospermia is limited, and no cases of TDRD12-related teratozoospermia have been reported. We identified two novel homozygous TDRD12 mutations (c.

Identification of an SMC1B Mutation Associated With Necrozoospermia and Failure of Testi-ICSI : SMC1B Mutation Associated With Necrozoospermia.

Investigating potential etiologies is important before selecting a therapeutic approach for male infertility. However, the genetic causes of idiopathic necrozoospermia are poorly understood. In this study, a heterozygous missense variant in SMC1B (NM_148674.

Comparison of outcomes between pulsatile gonadotropin releasing hormone and combined gonadotropin therapy of spermatogenesis in patients with congenital hypogonadotropic hypogonadism.

Background: To evaluate whether there was a difference in outcome between pulsatile gonadotropin releasing hormone (GnRH) therapy and human chorionic gonadotropin/human menopausal gonadotropin (hCG/HMG) therapy for induction of spermatogenesis in post-pubertal male patients with congenital hypogonadotropic hypogonadism (CHH).

Methods: This was a single-center retrospective cohort study conducted at the Andrology Center of a university hospital. A total of 155 postpubertal CHH patients who met the inclusion criteria underwent spermatogenic induction at the same andrology center.

From biological marker to clinical application: the role of anti-Müllerian hormone for delayed puberty and idiopathic non-obstructive azoospermia in males.

Graphical Abstract: Role of anti-Müllerian hormone (AMH) in male development and fertility prediction. (A) AMH levels in normal development, constitutional delay of growth and puberty (CDGP) and central hypogonadotropic hypogonadism (CHH) models. In normal males, AMH declines with puberty; in CDGP and CHH, AMH is normal or slightly elevated or abnormally low, indicating delayed or impaired pubertal progression.

Does the FNA sperm retrieval failure prediction model work well for current NOA individuals undertaking risk screening before the operation? Model validation, high-risk population identification and potential alternative sperm retrieval exploration.

Background: Non-obstructive azoospermia (NOA), the severe type of male infertility. The objective of this study was to evaluate the predictive accuracy of a prediction model of sperm retrieval failure with fine needle aspiration (FNA).

Methods: This study involved 769 NOA patients (dataset 1) undertaking FNA and 140 NOA patients undertaking mTESE (dataset 2).

Optimizing the Modified No-Scalpel Vasectomy Technique.

No-scalpel vasectomy (NSV) is a commonly used contraceptive method for males. In previous applications of this surgical method, issues such as knot detachment and postoperative recanalization resulted in a reduced contraceptive success rate after vasectomy. This new technique innovatively modifies the ligation procedure during NSV to address knot detachment and postoperative recanalization.

HSF5 Deficiency Causes Male Infertility Involving Spermatogenic Arrest at Meiotic Prophase I in Humans and Mice.

Meiosis is a specialized cell division process that generates gametes for sexual reproduction. However, the factors and underlying mechanisms involving meiotic progression remain largely unknown, especially in humans. Here, it is first showed that HSF5 is associated with human spermatogenesis.

Case report: remedial microdissection testicular sperm extraction after onco-microdissection testicular sperm extraction failure.

Background: Testicular cancer (TC) mostly occurs in men aged 14 to 44. Studies have shown that TC seriously damages male fertility, and 6% to 24% of patients with TC were even found to suffer from azoospermia when they are diagnosed. At present, some studies have pointed out that onco-microdissection testicular sperm extraction (mTESE) can extract sperm from tumor testicles.

Outcomes comparison of testicular versus ejaculated sperm for intracytoplasmic sperm injection in infertile men with high DNA fragmentation: updated systematic review and meta-analysis.

Background: The testicular sperm instead of ejaculated sperm for intracytoplasmic sperm injection (ICSI) in infertile men with high sperm DNA fragmentation (SDF) is a controversial topic. This updated systematic review and meta-analysis aims to evaluate whether couples with high level of SDF will benefit more from intracytoplasmic sperm injection with testicular sperm (Testi-ICSI) as compared to intracytoplasmic sperm injection with ejaculated sperm (Ejac-ICSI).

Methods: A systematic search was conducted according to PRISMA guidelines, using PubMed, Embase, Web of Science and the Cochrane Central Register of Controlled Trials (CENTRAL), encompassing studies from the earliest record until May 2022.

A Prediction Model of Sperm Retrieval in Males with Idiopathic Non-obstructive Azoospermia for Microdissection Testicular Sperm Extraction.

Patients with Idiopathic non-obstructive azoospermia (iNOA) can achieve fertility by extracting testicular sperm through microdissection testicular sperm extraction (mTESE). But more than half of iNOA patients still cannot benefit from mTESE. In recent years, some studies had reported that serum hormones may be related to the outcome of sperm retrieval, but few had been verified.

Haemangiomas in the urinary bladder: Two case reports.

Background: Urinary bladder haemangioma is a benign nonurothelial tumour that rarely occurs in paediatric and adolescent patients. Clinical and radiological examinations are not adequate for an accurate diagnosis. The purpose of this serial case report is to raise awareness of urinary bladder haemangioma and appropriate management.