Hidden X Chromosomal Mosaicism in a 46,XX Male

Черных, В. Б.; Курило, Л. Ф.; Shilova, N.V.; Zolotukhina, T. V.; Рыжкова, О. П.; Bliznetz, E. A.; Polyakov, A. V.

doi:10.1159/000228718

Cited by 8 publications

(8 citation statements)

References 29 publications

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“…Case 8 demonstrated low level of X‐chromosomal mosaicism, 46,X,der(X)/47,X,der(X),der(X)/45,X, and the clinical picture was not distinct from the diploid cases. X‐chromosomal mosaicism in SRY‐positive 46,XX TDSD has been reported in the literature previously, and mitotic nondisjunction has been suggested to be responsible for mosaicism (Chernykh et al., 2009; Macia Bobes, Alonso Troncoso, Botas Cervero, Castano Fernandez, & Fau Cubero, 2002). Patients with mosaicism have a clinical variability ranging from the true hermaphrodites to complete masculinisation based on the proportion of cell lines (Chernykh et al., 2009).…”

Section: Discussionmentioning

confidence: 91%

“…X‐chromosomal mosaicism in SRY‐positive 46,XX TDSD has been reported in the literature previously, and mitotic nondisjunction has been suggested to be responsible for mosaicism (Chernykh et al., 2009; Macia Bobes, Alonso Troncoso, Botas Cervero, Castano Fernandez, & Fau Cubero, 2002). Patients with mosaicism have a clinical variability ranging from the true hermaphrodites to complete masculinisation based on the proportion of cell lines (Chernykh et al., 2009). In our patient, the 46,XX cell line was predominant, and very low level of 45,X and 47,X,der(X),der(X) mosaicism was detected and having complete masculinisation is consistent with the previous studies.…”

Section: Discussionmentioning

confidence: 91%

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Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

et al. 2020

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46,XX testicular disorder of sex development (46,XX TDSD) is a relatively rare condition characterised by the presence of testicular tissue with 46,XX karyotype. The present study aims to reveal the phenotype to genotype correlation in a series of sex‐determining region Y (SRY)‐positive 46,XX TDSD cases. We present the clinical findings, hormone profiles and genetic test results of six patients with SRY‐positive 46,XX TDSD and give the details and follow‐up findings of our three of previously published patients. All patients presented common characteristics such as azoospermia, hypergonadotropic hypogonadism and an SRY gene translocated on the terminal part of the short arm of one of the X chromosomes. Mean ± standard deviation (SD) height of the patients was 164.78 ± 8.0 cm. Five patients had decreased secondary sexual characteristics, and three patients had gynaecomastia with varying degrees. Five of the seven patients revealed a translocation between protein kinase X (PRKX) and inverted protein kinase Y (PRKY) genes, and the remaining two patients showed a translocation between the pseudoautosomal region 1 (PAR1) of X chromosome and the differential region of Y chromosome. X chromosome inactivation (XCI) analysis results demonstrated random and skewed XCI in 5 cases and 1 case, respectively. In brief, we delineate the phenotypic spectrum of patients with SRY‐positive 46,XX TDSD and the underlying mechanisms of Xp;Yp translocations.

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Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 91%

Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

et al. 2020

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“…Cases of SRY-Positive 46,XX Testicular DSD 45 that can lead to X chromosomal mosaicism [Chernykh et al 2009]. Abnormal mitotic segregation would be related with advanced age and cause X chromosomal mosaicism [Ogata et al 2001] as it was in patient I.…”

Section: Resultsmentioning

confidence: 99%

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

Güneş

Aşçı

Ökten

et al. 2012

Systems Biology in Reproductive Medicine

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The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16-and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

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“…Screening of study titles and abstracts revealed 47 articles potentially eligible for inclusion; a further assessment based on the full-text led to the exclusion of 10 papers (Figure 1). The 37 selected studies described 64 adult patients with XX male syndrome [5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41].…”

Section: Resultsmentioning

confidence: 99%

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

et al. 2019

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Background and objectives: XX male syndrome is part of the disorders of sex development (DSD). The patients generally have normal external genitalia and discover their pathology in adulthood because of infertility. There are no guidelines regarding XX male syndrome, so the aim of our study was to evaluate the literature evidence in order to guide the physicians in the management of these type of patients. Materials and Methods: We performed a systematic review of the available literature in September 2018, using MEDLINE, Web of Science, Embase and Google Scholar database to search for all published studies regarding XX male syndrome according to PRISMA guidelines. The following search terms were used: “46 XX male”, “DSD”, “infertility”, “hypogonadism”. Results: After appropriate screening we selected 37 papers. Mean (SD) age was 33.14 (11.4) years. Hair distribution was normal in 29/39 patients (74.3%), gynecomastia was absent in 22/39 cases (56.4%), normal testes volume was reported in 0/14, penis size was normal in 26/32 cases (81.2%), pubic hair had a normal development in 6/7 patients (85.7%), normal erectile function was present in 27/30 cases (90%) and libido was preserved in 20/20 patients (100%). The data revealed the common presence of hypergonadotropic hypogonadism. All patients had a 46,XX karyotype. The sex-determining region Y (SRY) gene was detected in 51/57 cases. The position of the SRY was on the Xp in the 97% of the cases. Conclusions: An appropriate physical examination should include the evaluation of genitalia to detect cryptorchidism, hypospadias, penis size, and gynecomastia; it is important to use a validated questionnaire to evaluate erectile dysfunction, such as the International Index of Erectile Function (IIEF). Semen analysis is mandatory and so is the karyotype test. Abdominal ultrasound is useful in order to exclude residual Müllerian structures. Genetic and endocrine consultations are necessary to assess a possible hypergonadotropic hypogonadism. Testicular sperm extraction is not recommended, and adoption or in vitro fertilization with a sperm donor are fertility options.

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Hidden X Chromosomal Mosaicism in a 46,XX Male

Cited by 8 publications

References 29 publications

Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

Two Males with SRY-Positive 46,XX Testicular Disorder of Sex Development

46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review

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