Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)

Mekkawy, Mona; Kamel, Alaa K.; El-Ruby, Mona; Mohamed, Amal M.; Essawi, Mona; Soliman, Hala; Dessouky, Nabil; Shehab, Marwa; Mazen, Inas

doi:10.1002/ajmg.a.35487

Cited by 13 publications

(15 citation statements)

References 53 publications

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“…Speroff et al [1999] stated that typical mixed gonadal dysgenesis is characterized by the presence of a streak gonad on one side and a dysgenetic or normally appearing testis on the other side with subsequent müllerian and/or wolffian duct development. The most common karyotype of ovotesticular DSD is 46,XX, but other karyotypes were also reported like 46,XX/47,XXY [Ozsu et al, 2013] and 45,X/46,X,idic(Y) [Tran et al, 2011;Mekkawy et al, 2012].…”

Section: Discussionmentioning

confidence: 99%

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Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Mazen¹,

Mekkawy

Ibrahim

et al. 2018

Sex Dev

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Disorders of sex development (DSD) are conditions with an abnormal development of chromosomal, gonadal, or anatomical sex. Sex chromosome DSD involve conditions associated with either numerical or structural abnormalities of the sex chromosomes. This study included patients comprising a wide spectrum of presenting features suggestive of DSD and aimed at studying the frequency of sex chromosome abnormalities among 108 Egyptian DSD patients who presented to the Clinical Genetics and Endocrinology Clinics, National Research Centre (NRC) over the 2-year period of 2013 and 2014. The age of the studied patients ranged from 2 months to 39 years. The patients exhibited various presentations, including ambiguous genitalia, undescended testis, hypogonadism, short stature with Turner manifestations, primary or secondary amenorrhea, primary infertility, edema of the dorsum of the hands and feet, and dysmorphic features. The patients were subjected to detailed clinical examination, pubertal staging, and cytogenetic analysis. Our study reported a wide karyotypic diversity and a high frequency of sex chromosome DSD, reaching 44.44% (48/108). In conclusion, we showed a high incidence of sex chromosome DSD among Egyptian DSD patients with wide karyotype/phenotype diversity. The most frequent sex chromosome DSD detected among patients of the present study was Turner syndrome and variants (52.08%; 25/48) followed by Klinefelter syndrome and variants (43.75%; 21/48). Further long term studies are necessary for accurate detection of frequencies of different types of sex chromosomal anomalies and associated phenotypes.

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Section: Discussionmentioning

confidence: 99%

“…45,X chromosome mosaicism with Y chromosomal material is considered among the principle causes of ambiguous genitalia [Smith et al, 1996;Mekkawy et al, 2012]. The presence or absence of the SRY gene as well as other genomic sequences is involved in marked phenotypic diversity [Ogata, 2002;Abdelmoula and Amouri, 2005].…”

Section: Discussionmentioning

confidence: 99%

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Mazen¹,

Mekkawy

Ibrahim

et al. 2018

Sex Dev

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“…1 a). Similarly, Jakubowski et al [2000], Caglayan et al [2009] and Mekkawy et al [2012] reported male infants with MGD who had ambiguous genitalia and idic(Yp) abnormalities but in a high population of lymphocytes. It was suggested that the presence of a double dose of the SRY gene initiated male sexual development, but the existence of a 45,X cell line affected the threshold of SRY expression needed to establish adequate testicular differentiation.…”

Section: Discussionmentioning

confidence: 99%

“…Isodicentrics are considered the most common structural abnormality of the Y chromosome [Hsu, 1994;Quilter et al, 2002] and are explained by the occurrence of a single break, followed by fusion of the broken ends of sister chromatids and the loss of the acentric fragment during gametogenesis before spermatid formation [Quilter et al, 2002]. They are usually unstable during cell division, generating various types of cell lines, mainly including 45,X, leading to variable somatic features and different gonadal histopathologic findings [DesGroseilliers et al, 2006;Mekkawy et al, 2012].…”

Section: Discussionmentioning

confidence: 99%

“…Sex chromosome mosaicism can lead to a considerable phenotypic variability, ranging from almost normal males to girls with complete gonadal dysgenesis and can include cases with mixed gonadal dysgenesis (MGD) and OT-DSD [Hsu, 1994;DesGroseilliers et al, 2006;Mekkawy et al, 2012]. The resulting phenotype depends on the proportion of each cell line in different tissues, especially in the developing gonads [Alvarez-Nava et al, 2003;Gole et al, 2008].…”

Section: Discussionmentioning

confidence: 99%

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Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation

Kamel

El-Ghany²,

Mekkawy³

et al. 2015

Sex Dev

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Sex chromosome mosaicism results in a large clinical spectrum of disorders of sexual development (DSD). The percentage of 45,X cells in the developing gonad plays a major role in sex determination. However, few reports on the gonadal mosaic status have been published, and the phenotype is usually correlated with peripheral lymphocyte karyotypes, which makes the phenotype prediction imprecise. This study was conducted on 7 Egyptian DSD patients to demonstrate the effect of sex chromosome constitution of both blood lymphocytes and gonadal tissues on the phenotypic manifestations. Conventional cytogenetic and FISH analyses of blood lymphocytes were conducted, and laparoscopy with gonadal biopsy was performed for histopathologic examination and FISH analysis. Gonosomal mosaicism was detected in 3 patients who had a non-mosaic chromosome pattern in blood lymphocytes. Two patients showed the same type of sex chromosome mosaicism in both the blood and gonadal tissues but with different distributions. Two other patients revealed a non-mosaic pattern in both tissues. The present study elucidates the importance of examining sex chromosome mosaicism in gonadal tissues of DSD patients and highlights the critical role of 45,X mosaicism which can lead to serious effects during early gonadal organogenesis.

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Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management

Hipp

Mohnach

Wei

et al. 2015

American J of Med Genetics Pt A

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Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq)x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development.

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Isodicentric Y chromosomes in Egyptian patients with disorders of sex development (DSD)

Cited by 13 publications

References 53 publications

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Clinical and Cytogenetic Study of Egyptian Patients with Sex Chromosome Disorders of Sex Development

Sex Chromosome Mosaicism in the Gonads of DSD Patients: A Karyotype/Phenotype Correlation

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management

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