Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Al-Alawi, Intisar; Goud, Tadakal Mallana; Al-Harasi, Salma Mohammed; Rajab, Anna

doi:10.1016/j.rbmo.2015.11.019

Cited by 11 publications

(6 citation statements)

References 34 publications

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“…Comparing our results with other studies, the frequency of chromosomal abnormalities identified in this study (7.13%) is in accordance ( p > .05) with the frequencies reported in Saudi Arabia (4.4%) (Husain & Zaki, ) and in Sultanate of Oman (10.07%) (Al‐Alawi, Goud, Al‐Harasi, & Rajab, ), and is less frequent than the frequency reported in Turkey (13.6%) (Balkan et al, ) (Figure ).…”

Section: Resultssupporting

confidence: 91%

“…It is characterized by the presence of small testes, lack of sperm development, and late puberty with diminished secondary sexual characteristics. The physique is usually fine and elongated with sometimes gynecomastia (Al‐Alawi et al, ). However, the XXY karyotype was identified in 18 patients with AG, while XXYY,22ps+ and X/X,idic(Y)/XXY karyotypes were observed in one patient each with AG.…”

Section: Resultsmentioning

confidence: 99%

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Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience

Elkarhat

Belkady

Charoute

et al. 2019

American J of Med Genetics Pt A

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The aim of the present study was to determine the frequency and nature of chromosomal abnormalities involved in patients with the clinical spectrum of ambiguous genitalia (AG), amenorrhea, and Turner phenotype, in order to compare them with those reported elsewhere. The study was conducted in the Cytogenetic Department of Pasteur Institute of Morocco, and it reports on the patients who were recruited between 1996 and 2016. Cytogenetic analysis was performed according to the standard method. Among 1,415 patients, chromosomal abnormalities were identified in 7.13% (48/673) of patients with AG, 17.39% (28/161) of patients with primary amenorrhea (PA), 4% (1/25) of patients with secondary amenorrhea, and 23.20% (129/556) of patients with Turner phenotype. However, Turner syndrome was diagnosed in 0.89% (6/673) of patients with AG, 10.56% (17/161) of patients with PA, and 19.78% (110/556) of patients with Turner phenotype. In addition, Klinefelter syndrome and mixed gonadal dysgenesis were confirmed in 2.97% and 1.93% of patients, respectively, with AG, while, chimerism, trisomy 8, and trisomy 13 were confirmed only in 0.15% each. Trisomy 21 was confirmed in patients with AG and Turner phenotype (0.15% and 0.36%, respectively). Moreover, 5.60% (9/161) of patients with PA have been diagnosed as having sex reversal. Thus, the frequency of chromosomal abnormalities observed in Moroccan patients with PA is comparable to that reported in Tunisia, Turkey, Iran, and Hong Kong. However, the frequency is significantly less than that identified in India, Malaysia, Italy, and Romania.

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Section: Resultssupporting

confidence: 91%

Section: Resultsmentioning

confidence: 99%

Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience

Elkarhat

Belkady

Charoute

et al. 2019

American J of Med Genetics Pt A

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“…The two most common etiologies for PA were MRKH (n = 14, 23.3%) and gonadal dysgenesis (8,13.33%), and three patients were diagnosed with 46, XY. One had Sweyer's syndrome, and two patients had androgen insensitivity syndrome (AIS) (Fig.…”

Section: Resultsmentioning

confidence: 99%

“…However, the significant impact on sexual ambiguity, delayed puberty, amenorrhea and infertility is well known. 8 Karyotyping is particularly crucial for patients with PA. It allows for appropriate diagnosis and management as further testing (including fluorescent in situ hybridization [FISH] and comparative genomic hybridization) may also be needed.…”

Section: Introductionmentioning

confidence: 99%

Chromosomal aberrations in women with primary and secondary amenorrhea: A cross‐sectional study

Al‐Jaroudi¹,

Hijazi²,

Bashir

et al. 2019

J of Obstet and Gynaecol

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Aim: Among women of childbearing age, about 2-5% are affected by amenorrhea that is either primary or secondary. However, there are no data regarding the frequency and type of chromosomal abnormalities associated with amenorrhea in Saudi women. The present study aims to establish the frequency and pattern of chromosomal abnormalities in primary amenorrhea (PA) and secondary amenorrhea (SA) cases in a tertiary care center, Riyadh, Saudi Arabia. Methods: This cross-sectional study was conducted between 2013 and 2016 on women referred to the Reproductive Endocrine and Infertility Medicine Department at a tertiary care center in Riyadh. Women were divided into two groups: PA and SA. After the initial diagnosis of amenorrhea based on medical history, physical examination, hormonal profile and ultrasonography, chromosome karyotype analysis was conducted on metaphase preparations following routine cytogenetics culture and harvest methods. Results: Chromosomal tests were performed for 53 patients (42 with PA and 11 with SA) out of 79 referred patients with amenorrhea. About 19% of the 42 patients with PA and 1 patient (9.1%) diagnosed as SA showed an abnormal karyotype. The most common abnormal karyotypes observed were 46, XY and 45, X. Conclusion: The present study indicates that the chromosomal analysis after the exclusion of nongenetic causes should be essentially considered for the precise diagnosis and the development of more successful management for females with amenorrhea. This study also revealed that the prevalence of chromosomal abnormalities in women with PA and SA is similar to that reported in the literature.

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“…The basal level of T varies widely in the population; therefore, the ratio of the T/LH is considered a better parameter for evaluating male gonad function. Also, in the early stage of hypogonadism, T production may be decreased which cause the increase of LH and finally change the T/LH ratio [ 111 , 112 ].…”

Section: Sars-cov-2 Virus and Male Hormonesmentioning

confidence: 99%

The probable destructive mechanisms behind COVID-19 on male reproduction system and fertility

Moshrefi

Ghasemi-Esmailabad

Ali

et al. 2021

J Assist Reprod Genet

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Purpose The present study aims to summarize the current understanding of probable mechanisms and claims of adverse effects of SARS-CoV-2 on male fertility potential. Methods Our search was including original articles, reviews, guidelines, letters to the editor, comments on guidelines, and editorials, regarding the male reproductive system. We used the words SARS-CoV-2, coronavirus, severe acute respiratory syndrome coronavirus 2, “2019 ncov,” testis, sperm, male factor infertility, fertility treatment, semen, assisted reproductive technology (ART), sexual transmission, and ACE2. Results Data showed coronavirus affects men more than women because of more expression of 2019 nCoV receptors (ACE2 and TMPRSS2) in testicular cells. Also, “Bioinformatics Analysis” suggests that sperm production may be damaged, since “Pseudo Time Analysis” has shown disruption in spermatogenesis. “Gene Ontology” (GO) showed an increase in viral reproduction and a decrease in sperm production-related terms. Recently, SARS-COV-2 mRNA and protein were detected in the semen of patients that had recovered from SARS-CoV-2 infection. Therefore, the probable disruption of blood-testis barrier (BTB) in febrile diseases is suspected in the acute phase of the disease enabling viral entry into the testes. Not only is spermatogenesis disturbed, but also disturbs gonadotropin, androgens, and testosterone secretion during SARS-CoV-2 infection. No sexual transmission has been reported yet; however, detection of the virus in semen still makes the sexual transmission an open question. Conclusion There is a concern that male fertility may be disturbed after the SARS-CoV-2 infection. Therefore, follow-up of the reproductive functions and male fertility may be necessary in recovered cases, especially in aged men.

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Cytogenetic studies of 1232 patients with different sexual development abnormalities from the Sultanate of Oman

Cited by 11 publications

References 34 publications

Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience

Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience

Chromosomal aberrations in women with primary and secondary amenorrhea: A cross‐sectional study

The probable destructive mechanisms behind COVID-19 on male reproduction system and fertility

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