RESUMO
Background: Telomeres are evolutionary, specialized terminal structures at the ends of eukaryotic chromosomes containing TTAGGG repeats in human. Several human diseases have been known to be associated with dramatic changes in telomere length. The aim of the present study was to assess the correlation between the relative leukocyte telomere length [LTL] and infertility in a group of Iranian azoospermic males
Methods: In this casecontrol pilot study, relative telomere length [RTL] of peripheral blood leukocytes from a total of 30 idiopathic nonobstructive azoospermic males and 30 healthy fertile males was evaluated using real-time PCR. RTL was calculated as T [telomere]/S [single copy gene] ratio and compared between infertile and fertile groups
Results: Patients with azoospermia showed significantly shorter RTL than fertile males [0.54 vs. 0.84, p < 0.05]. The area under the receiver operating characteristic [ROC] curve was estimated to be 99.8%, suggesting LTL as a potential marker for the diagnosis of azoospermia
Conclusion: Our findings demonstrated a probable association between telomere shortening and azoospermia in a population of Iranian infertile men affected by idiopathic azoospermia
RESUMO
Chanarin-Dorfman syndrome [CDS] is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of alpha/beta-hydrolase enzyme [ABHD5]. It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as new cases of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5. According to the American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant