Prevalence of Y-chromosomal microdeletions and karyotype abnormalities in a cohort of Lebanese infertile men

Abstract

Background: Male infertility is the main issue that accounts for 50% of infertility in couples. There are about 25% of men suffering from nonobstructive infertility with chromosomal abnormalities and/or microdeletions of the long arm of the Y-chromosome. Materials and Methods: A retrospective chart review was performed on 241 men who performed Y-chromosome microdeletions and karyotype testing. Results: Six patients had microdeletions. Three patients had AZFc microdeletion, of which one had both AZFc/d microdeletions. Three patients had AZFb/c microdeletion. There was no AZFa microdeletion. One out of the six patients had abnormal karyotype (mos, X[17]/46, XY[13]). Four patients were azoospermic, two had severe oligospermia, with sperm count <5 million/ml, and two patients had small size testicles on ultrasound. All were advised microsurgical testicular sperm extraction. Three were done, and one was successful resulting in sperm retrieval. The most common karyotype abnormalities were 47, XXY (Klinefelter syndrome) in 27% of cases. Conclusion: Laboratory genetic testing is advised for males with nonobstructive infertility. Any abnormal finding can yield substantial consequences to assisted reproductive techniques or fertility treatment. It can offer a stable diagnosis for those with infertility issues. It is important to conduct counseling and routine genetic testing before assisted reproductive techniques.

Calcium Carbonate Urolithiasis in a Pediatric Patient: A Case Report

“…Regarding stone composition, according to the cohort study conducted by Degheili et al in 2022, which analyzed the stone composition of 624 patients, it was found that calcium carbonate stones accounted for only nine (1.4%) cases, which makes it very rare [7]. The pathophysiology of urinary stones in general is multifactorial; unfortunately, because of their rarity, there is not so much information about the pathogenesis and risk factors related to calcite stones, and the literature is limited to reporting that this composition is often associated with urinary tract infections [10].…”

“…This endemicity has been attributed to the convergence of genetic, environmental, dietary, and climatological factors that promote renal stone formation [6]. In terms of stone composition, calcium carbonate (calcite) calculi are very infrequent, as they are present in just 0.01%-1.4% of all UL cases, and pure calcite composition is even rare [7,8]. Calculi composition is significant for therapeutic planning, prognosis determination, and long-term management [9], but the clinical presentation of calcite-dominant and pure calcite UL in the pediatric population is unexplored, making its documentation crucial to guide optimal therapeutic approaches.…”

Type 4 renal tubular acidosis and uric acid nephrolithiasis: two faces of the same coin?

“…In stone formers from the Middle East, UA stones represent the second most encountered stone type after CaOx stones [44,45], whereas in large series of stone formers from developed countries, UA stones represent the third most encountered stone type, following in frequency CaOx and calcium phosphate stones [46][47][48]. However, several single-center longitudinal series have reported a progressive increase in the proportion of UA stones over the past 3-4 decades [49,50], and a recent large U.S. multistate series of nearly 100 000 stones analyzed between 2016-2019 reported UA stones to be the second most encountered stone type after CaOx stones [51 ,53,54], and are significantly more common among male (vs. female), older (vs. younger), obese (vs. nonobese), and diabetic (vs. nondiabetic) stone formers [51…”