An infant with a mosaic 45,X/46,X,psu dic(Y) (pter→q11.2:q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads

Reddy, Kavita S.; Sulcova, Vladimira; Ho, Chen-Kung; Conner, E.D.; Khurana, Arushi

doi:10.1002/(sici)1096-8628(19961230)66:4<441::aid-ajmg11>3.0.co;2-u

Cited by 16 publications

(11 citation statements)

References 7 publications

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“…A correlation between the gonadal differentiation pattern and the percentage of Y‐positive cells was suggested in XX↔XY chimeric mice models: it was found that if the gonad contains less than 30% Y‐positive cells, it develops as an ovary 33 . First, this mouse model seemed to be confirmed in humans, based on an analysis of five 45,X/46,XY patients: testicular parts revealed a higher percentage of XY cells than ovarian parts 9,10 . However, two case reports describe testicular differentiation in the presence of low grade mosaicism for a Y‐bearing cell line 8,11 .…”

Section: Discussionmentioning

confidence: 91%

“…In spite of our increasing knowledge on genes involved in normal sex development, the disturbed gonadal differentiation processes that underlie gonadal dysgenesis (GD) syndromes are less well understood 1–5 . Little is known about the correlations between peripheral blood (PBL) karyotype and/or skin fibroblasts on the one hand, and the gonadal karyotype and morphological differentiation patterns of the gonad on the other 6–11 . Traditionally, in GD, three differentiation patterns have been described: (dysgenetic) testicular tissue, ovarian tissue, and streak gonads.…”

Section: Introductionmentioning

confidence: 99%

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Impact of the Y‐containing cell line on histological differentiation patterns in dysgenetic gonads

Cools

Boter

Gurp

et al. 2007

Clinical Endocrinology

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The distribution of the Y-containing cell line in peripheral blood is not a suitable indicator for predicting the histological differentiation pattern found in the gonads of patients with gonadal dysgenesis. The analysis of Y-containing cell lines in the gonads of such patients could be informative with regard to the specific characteristics of gonadal development in humans as compared to chimeric mouse models. Moreover, it is essential to understand the mechanisms underlying disturbed gonadogenesis in these patients. As the gonadal karyotype is not related to the encountered gonadal differentiation pattern, it does not allow prediction of the risk for gonadoblastoma formation.

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Section: Discussionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Impact of the Y‐containing cell line on histological differentiation patterns in dysgenetic gonads

Cools

Boter

Gurp

et al. 2007

Clinical Endocrinology

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“…This seemed at first to be confirmed in humans [27,28], however two subsequent case reports and analysis of a larger series of samples show no correlation between the degree of gonadal mosaicism and differentiation pattern [6,29,30]. The study by Cools et al [6] revealed no clear correlation between peripheral blood karyotype and gonadal karyotype, or between the gonadal karyotype and differentiation pattern found in the gonads.…”

Section: Discussionmentioning

confidence: 99%

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

et al. 2012

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BackgroundThe presence of the Y-chromosome or Y chromosome-derived material is seen in 4-60% of Turner syndrome patients (Chromosomal Disorders of Sex Development (DSD)). DSD patients with specific Y-chromosomal material in their karyotype, the GonadoBlastoma on the Y-chromosome (GBY) region, have an increased risk of developing type II germ cell tumors/cancer (GCC), most likely related to TSPY. The Sex determining Region on the Y gene (SRY) is located on the short arm of the Y-chromosome and is the crucial switch that initiates testis determination and subsequent male development. Mutations in this gene are responsible for sex reversal in approximately 10-15% of 46,XY pure gonadal dysgenesis (46,XY DSD) cases. The majority of the mutations described are located in the central HMG domain, which is involved in the binding and bending of the DNA and harbors two nuclear localization signals. SRY mutations have also been found in a small number of patients with a 45,X/46,XY karyotype and might play a role in the maldevelopment of the gonads.MethodsTo thoroughly investigate the presence of possible SRY gene mutations in mosaic DSD patients, we performed next generation (deep) sequencing on the genomic DNA of fourteen independent patients (twelve 45,X/46,XY, one 45,X/46,XX/46,XY, and one 46,XX/46,XY).Results and conclusionsThe results demonstrate that aberrations in SRY are rare in mosaic DSD patients and therefore do not play a significant role in the etiology of the disease.

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“…Reddy et al . also reported the utility of FISH for detecting low frequency mosaicism in MGD (15). There have also been several studies of Turner syndrome reporting the detection of the Y chromosome by FISH (16,17,18).…”

Section: Discussionmentioning

confidence: 99%

Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis

Takahashi

Miyamoto

Hasegawa

2006

Clin Pediatr Endocrinol

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Mixed gonadal dysgenesis (MGD) is an abnormal sexual differentiation syndrome usually presenting with ambiguous genitalia. Karyotype analysis is one of the essential components in the diagnosis of MGD and is conventionally done with peripheral lymphocytes by the G-banding technique. It is speculated that this conventional karyotype analysis has limitations since there are often difference in gonadal tissue analysis. Here we present four cases of MGD, in which karyotype analysis were performed by peripheral lymphocytes fluorescence in situ hybridization (FISH), gonad fibroblasts FISH and gonad fibroblasts G-banding technique, in addition to the conventional peripheral lymphocytes G-banding technique. In Case 1, the percentage of the 45,X cell line in lymphocytes decreased after birth and detection of mosaicism could only be done by karyotype of gonads at 7 mo of age. In Case 2, FISH analysis with peripheral lymphocytes was more useful for detecting low frequency mosaicism. In all cases, phenotype of gonads and external genitalia were more consistent with karyotype of gonads than that of the peripheral lymphocytes G-banding technique. In conclusion, conventional G-banding karyotype analysis with peripheral lymphocytes has limitations in the diagnosis and evaluation of MGD. Karyotype analysis by FISH or by using gonads is useful for diagnosing MGD and understanding of the phenotype of gonadal tissue.

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An infant with a mosaic 45,X/46,X,psu dic(Y) (pter→q11.2:q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads

Cited by 16 publications

References 7 publications

Impact of the Y‐containing cell line on histological differentiation patterns in dysgenetic gonads

Impact of the Y‐containing cell line on histological differentiation patterns in dysgenetic gonads

SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype

Limitations of G-banding Karyotype Analysis with Peripheral Lymphocytes in Diagnosing Mixed Gonadal Dysgenesis

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