Publications by authors named "Hamed AlAli"

4 Publications

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A genomics approach to male infertility.

Genet Med 2020 Dec 28;22(12):1967-1975. Epub 2020 Jul 28.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Purpose: Male infertility remains poorly understood at the molecular level. We aimed in this study to investigate the yield of a "genomics first" approach to male infertility.

Methods: Patients with severe oligospermia and nonobstructive azoospermia were investigated using exome sequencing (ES) in parallel with the standard practice of chromosomal analysis.

Results: In 285 patients, 10.5% (n = 30) had evidence of chromosomal aberrations while nearly a quarter (n = 69; 24.2%) had a potential monogenic form of male infertility. The latter ranged from variants in genes previously reported to cause male infertility with or without other phenotypes in humans (24 patients; 8.4%) to those in novel candidate genes reported in this study (37 patients; 12.9%). The 33 candidate genes have biological links to male germ cell development including compatible mouse knockouts, and a few (TERB1 [CCDC79], PIWIL2, MAGEE2, and ZSWIM7) were found to be independently mutated in unrelated patients in our cohort. We also found that male infertility can be the sole or major phenotypic expression of a number of genes that are known to cause multisystemic manifestations in humans (n = 9 patients; 3.1%).

Conclusion: The standard approach to male infertility overlooks the significant contribution of monogenic causes to this important clinical entity.
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http://dx.doi.org/10.1038/s41436-020-0916-0DOI Listing
December 2020

Male Infertility in Robertsonian Translocation: A Case Report.

Am J Case Rep 2020 May 15;21:e921616. Epub 2020 May 15.

Department of Urology, Division of Andrology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

BACKGROUND Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic material; they are usually phenotypically normal adults who present with reproductive issues. Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal semen analysis. Some patients have positive sperms in the ejaculate. Therefore, fertility management can be offered to couples to achieve pregnancy and delivery of healthy neonates. CASE REPORT We present 2 cases of 34- and 35-year-old males who presented to our tertiary care hospital because of primary infertility. Semen analysis showed nonobstructive cryptozoospermia and azoospermia, respectively. Genetic tests revealed ROB translocation (13;14). Fertility treatment was offered to both couples. CONCLUSIONS Males with ROB translocation can have positive sperms in the ejaculate. A multidisciplinary approach should be offered to the couples to help them achieve clinical pregnancy, reduce the risk of miscarriage, and increase the rates of delivery of healthy neonates.
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http://dx.doi.org/10.12659/AJCR.921616DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252845PMC
May 2020

Intra-scrotal extra-testicular schwannoma: A case report and literature review.

Urol Case Rep 2020 Sep 9;32:101205. Epub 2020 Apr 9.

King Faisal Specialist Hospital, Urology Department, Riyadh, Saudi Arabia.

Intra-scrotal schwannoma is a rare neoplasm and a few reports were describing this entity in the literature and mostly difficult to be diagnosed pre operatively(1) We recently treated a case of intra-scrotal extra-testicular schwannoma which was discovered in a patient with history of painless scrotal lesion for 5 years. paratesticular lesion excision was done which was result as schwannoma tissue. follow up with US scrotum was unremarkable for the patient. surgical excision will provide diagnostic and therapeutic goals. Even tough recurrence is rare a urologist should take care to ensure complete surgical resection.
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http://dx.doi.org/10.1016/j.eucr.2020.101205DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191215PMC
September 2020

Infertility secondary to an infected hydrocele: A case report.

Urol Case Rep 2020 Jan 8;28:101071. Epub 2019 Nov 8.

King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Hydroceles are one of the most common causes of scrotal swelling affecting around 1% of the adult population. While hydroceles are usually asymptomatic, some hydroceles can lead to infertility. We will present a case of a 34-year-old man who was referred to our center as a case of primary infertility (sever oligospermia 1.1 million/ml) for 4 years and was found to have bilateral hydroceles (infected right hydrocele). At 18 months post bilateral hydrocelectomy, the patient's total sperm count improved to 43 Million/ml. Therefore, we highly recommend considering hydrocele as an etiology in any patient with idiopathic infertility.
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http://dx.doi.org/10.1016/j.eucr.2019.101071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6909161PMC
January 2020