Purpose: We evaluated clinical characteristics, sperm retrieval rates, and birth rates in a relatively large number of infertile patients with Y chromosome microdeletions.
Materials And Methods: We retrospectively reviewed clinical data from 213 patients with nonobstructive azoospermia (NOA) and 76 patients with oligoasthenoteratozoospermia (OATS) who were tested for Y chromosome microdeletion from March 2004 to June 2011.
Results: Of the 289 patients, 110 patients presented with Y chromosome microdeletion and 179 patients presented with no microdeletion. Among the patients with Y chromosome microdeletions, 83/110 (75.4%) were NOA patients and 27/110 (24.5%) were OATS patients. After subdividing the patients with Y chromosome microdeletion, 29 had azoospermia factor (AZF)b-c microdeletion and 81 had AZFc microdeletion. The sperm retrieval rate was similar between patients with Y chromosome microdeletion and those with no microdeletion (26.6% vs. 25.6%, p=0.298) after multiple testicular sperm extraction (TESE). Excluding 53 patients who did not undergo TESE, 30 patients were analyzed. All of the 9 men with AZFb-c microdeletion had a complete absence of sperm despite multiple TESE. However, multiple TESE was successful for 9 of 21 patients with only AZFc microdeletion (p=0.041). Twenty patients with Y chromosome microdeletion gave birth.
Conclusions: In NOA and OATS patients, no significant difference in the sperm retrieval rate was shown between patients with Y chromosome microdeletion and those with no microdeletion. Patients with short Y chromosome microdeletion such as AZFc microdeletion have better prognoses for sperm retrieval and an increased chance of conception than do patients with larger microdeletions such as AZFb-c microdeletion.
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http://dx.doi.org/10.4111/kju.2013.54.2.111 | DOI Listing |
Prenat Diagn
January 2025
Discipline of Women's Health, University of New South Wales, Randwick, Australia.
Introduction: Genome-wide non-invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.
View Article and Find Full Text PDFNature
January 2025
Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA.
Cerebral cortex development in humans is a highly complex and orchestrated process that is under tight genetic regulation. Rare mutations that alter gene expression or function can disrupt the structure of the cerebral cortex, resulting in a range of neurological conditions. Lissencephaly ('smooth brain') spectrum disorders comprise a group of rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy and intellectual disability.
View Article and Find Full Text PDFMed J Armed Forces India
December 2024
DGAFMS, O/o DGAFMS, Ministry of Defence, A Block, Africa Avenue, New Delhi, India.
Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parental concern and anxiety.
View Article and Find Full Text PDFSci Rep
December 2024
Department of Endocrinology, Children's Hospital, Zhejiang University School of Medicine, National Children's Regional Medical Center, National Clinical Research Center for Child Health, 3333 Binsheng Road, Hangzhou, 310052, Zhejiang Province, China.
Williams Syndrome (WS) is a rare neurodevelopmental disorder with a prevalence of 1 in 7500 to 1 in 20,000 individuals, caused by a microdeletion in chromosome 7q11.23. Despite its distinctive clinical features, the underlying metabolic alterations remain largely unexplored.
View Article and Find Full Text PDFVavilovskii Zhurnal Genet Selektsii
November 2024
Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russia.
The Y chromosome contains a set of genes with testis-specific expression that are responsible for the development of testes and spermatogenesis, and it is the most important target in the search for genetic causes of male infertility. Most of these genes are located in the "azoospermia factor" AZF locus (regions AZFa, AZFb, and AZFc) on the long arm of the Y chromosome. Microdeletions of the Y chromosome, leading to the removal of the entire AZF locus as well as one or more regions (complete deletions), are one of the leading causes of spermatogenesis impairment and infertility.
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