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

Abstract

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.

Clinical profile of patients of turner syndrome (TS) with karyotype-phenotype corelation from a tertiary care hospital in Eastern Uttar Pradesh (UP), India

“…The overall worldwide reported prevalence of 45, XO karyotype is 40-50%, 45XO/46XX mosaicism of 15-25% and isochromosome of 10% and rest being rare karyotypes. 5,11 Mondal S et al from India reported 44.1% of classical 45, XO karyotype followed by 26.5% of isochromosomes. 12 We did not find any significant corelation of karyotype with phenotypic features in our study likely due to small study group.…”

Cytogenetic profiles of a large cohort of patients with sexual developmental disorders; A 22-year single-center experience

“…On the other hand, 61.9% of our AG patients had normal karyotype, and CA was found in 38.1% of patients with AG. In a similar study conducted in Morocco, it was reported that 78.31% of patients with AG had normal karyotype, and 7.1% of patients had CAs(Elkarhat et al,2019). In other studies, CA was reported to be 4.4% in Saudi Arabia, 10.1% in Oman and 13.6% in Turkey(Balkan et al,2010;Husain and Zaki 1999;Al-Alawi et al,2016).…”

Caracterização molecular e classificação funcional de novos padrões de expressão génica e de RNA não codificadores no tecido testicular de homens com infertilidade genética ou idiopática

“…Nos últimos cinco anos, os estudos de frequência das anormalidades dos cromossomos sexuais associadas a infertilidade masculina relataram que nos países do continente africano como o Moroccos, a frequência da síndrome de Klinefelter é de 2,97% de uma corte de indivíduos com infertilidade e alteração na genitália (Elkarhat et al, 2019). Já na Europa, as recentes pesquisas sob a frequência revelaram uma prevalência de 11/100 000 recém nascidos na Dinamarca (Berglund et al, 2019) Vogt et al, 1996).…”