: To provide a summary of the current evaluation of azoospermia and insights into future perspectives in the evaluation and counselling of men with azoospermia. : A search of PubMed, Cochrane Reviews and Web of Science databases was performed for full-text English-language articles published between 1943 and 2020 focussing on 'future perspectives', 'azoospermia' and 'evaluation'. : Azoospermia represents a severe form of male infertility characterised by sperm production so impaired that there are no sperm present in the ejaculate. The current evaluation of azoospermia focusses on patient history and physical examination with selected adjunctive laboratory investigations including serum hormones, a karyotype and screening for Y chromosome microdeletions. Future diagnostics are focussed on identifying the underlying genetic aetiologies for azoospermia, as well as a greater emphasis on screening for systemic illness that men with severe infertility may be predisposed to develop. : Azoospermia represents an extreme form of male infertility, and evaluation relies heavily on history and physical examination, as genetic evaluations for these individuals remain limited. Future evaluation will focus on next-generation sequencing and more rigorous evaluation for possible co-existing and future risk of systemic disease. : ADGRG2, adhesion G protein-coupled receptor G2; ASRM: American Society of Reproductive Medicine; AZF: azoospermia factor; CBAVD: congenital bilateral absence of the vas deferens; CFTR: cystic fibrosis transmembrane conductance regulator; CRKL: CRK-like proto-oncogene; E2F1: E2F transcription factor 1; HAUS7: HAUS augmin-like complex subunit 7; HR: hazard ratio; KS: Klinefelter syndrome; MAZ, MYC-associated zinc finger protein; NGS: next-generation sequencing; NOA: non-obstructive azoospermia; OA: obstructive azoospermia; RHOX: reproductive homeobox on the X chromosome; SH2: SRC homology 2; TAF7L: TATA-box binding protein associated factor 7-like; TEX11: testis-expressed 11; WES: whole-exome sequencing.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451618 | PMC |
| http://dx.doi.org/10.1080/2090598X.2021.1954415 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Background: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFIdentification of deleterious variants associated with male infertility genes in a cohort of idiopathic hypospermatogenesis patients.
Front Reprod Health
January 2025
Department of Reproductive Biology, All India Institute of Medical Sciences, Delhi, India.
Introduction: Hypospermatogenesis is a common histopathological subtype of non-obstructive azoospermia and is characterized by a decrease in the total number of germ cells within the seminiferous tubule as a result of spermatogenic failure. Determination of genetic factors before intracytoplasmic sperm injection can prevent the inheritance of these factors, as hypospermatogenesis patients gives high successful sperm retrieval rate. This study aimed to identify the structural variants associated with idiopathic hypospermatogenesis (iHS) by analyzing patient cohorts diagnosed with azoospermia using whole exome sequencing.
View Article and Find Full Text PDFSuccess Rates of Assisted Reproduction for Men With Cystic Fibrosis.
Pediatr Pulmonol
January 2025
Department of Respiratory Medicine, Manchester Adult Cystic Fibrosis Centre, North West Lung Centre, Wythenshawe Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Background: The vast majority of men with CF (mwCF) are infertile. Improvements in assisted reproductive technology (ART) have made it possible for these patients to become biological fathers.
Methods: Data were examined for all male CF patients attending a large adult CF center over a 23-year period.
From biological marker to clinical application: the role of anti-Müllerian hormone (AMH) for delayed puberty and idiopathic non-obstructive azoospermia in males.
Endocr Connect
January 2025
X Jiang, Human Sperm Bank, Sichuan University West China Second University Hospital, Chengdu, China.
Anti-Müllerian hormone (AMH), a biomarker secreted by Sertoli cells in the testes, has emerged as a critical indicator of male reproductive function with significant clinical application potential. AMH reflects Sertoli cell activity and plays a pivotal role across different stages of male gonadal function. Firstly, in prepubertal males, AMH levels are crucial for assessing testicular development and the progression of puberty, with delayed or insufficient AMH secretion often being associated with disorders like delayed puberty.
View Article and Find Full Text PDFAim: Within the in vitro fertilization (IVF) process, to evaluate the possibility of using the state of the meiotic spindle of oocytes as an indicator of maturity in order to optimize the timing of vitrification.
Patients And Methods: In the presented report, the cause of couple infertility was a combination of a 38-year-old female and 43-year-old male with azoospermia, which was an indication for oocyte vitrification. Oocyte polar bodies and optically birefringent meiotic spindles were visualized by polarized light microscopy and their states and relative positions were used as indicators of oocyte maturation, i.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!