46,XX Sex Reversal

Zenteno-Ruíz, Juan Carlos; Kofman‐Alfaro, Susana; Méndez, Juan Pablo

doi:10.1016/s0188-4409(01)00322-8

Cited by 64 publications

(61 citation statements)

References 81 publications

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“…The majority of XX true hermaphrodites have no cytogenetic evidence for mosaicism, chimerism or translocated Y chromosome sequences and molecular studies have shown that SRY and other Y-specific sequences are absent in the great majority of them (20). SRY was not identified in any of the eleven 46,XX true hermaphrodites of our group (22).…”

Section: Sry Genementioning

confidence: 72%

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Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

Domenice

Corrêa

Costa

et al. 2004

Braz J Med Biol Res

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In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the indifferent fetal gonad. Mutation studies have identified several genes essential for early gonadal development. We report here a molecular study of the SRY, DAX1, SF1 and WNT4 genes, mainly involved in sexual determination, in Brazilian 46,XX and 46,XY sex-reversed patients. The group of 46,XX sex-reversed patients consisted of thirteen 46,XX true hermaphrodites and four 46,XX males, and was examined for the presence of the SRY gene and for the loss of function (inactivating mutations and deletions) of DAX1 and WNT4 genes. In the second group consisting of thirty-three 46,XY sex-reversed patients we investigated the presence of inactivating mutations in the SRY and SF1 genes as well as the overexpression (duplication) of the DAX1 and WNT4 genes. The SRY gene was present in two 46,XX male patients and in none of the true hermaphrodites. Only one mutation, located outside homeobox domain of the 5' region of the HMG box of SRY (S18N), was identified in a patient with 46,XY sex reversal. A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sexreversed patient without adrenal insufficiency. The dosage of DAX1 and WNT4 was normal in the sex-reversed patients studied. We conclude that these genes are rarely involved in the etiology of male gonadal development in sex-reversed patients, a fact suggesting the presence of other genes in the sex determination cascade.

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Section: Sry Genementioning

confidence: 72%

“…The observation of 46,XX sex-reversed patients revealed that some of them carried SRY translocations from the Y to the X chromosome (3,20). XX males can be classified as Y-positive and Y-negative depending on the presence or absence of Y-derived specific sequences.…”

Section: Sry Genementioning

confidence: 99%

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

Domenice

Corrêa

Costa

et al. 2004

Braz J Med Biol Res

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“…85% of patients have normal phenotype at birth. They are diagnosed while being investigated for hypogonadism, gynecomastia or infertility (12). Our patient was diagnosed during the investigations for his complaint of gynecomastia.…”

Section: Discussionmentioning

confidence: 99%

46, XX Sry(+) Male Sexual Differentiation Disorder with Metabolic Syndrome: A Case Report

Cosar¹,

Demirci²,

Kocakap³

et al. 2014

tjem

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“…Duplications of a 160 kb region (DSS) that includes DAX1 are associated with disruption of the process of male sex determination and testis formation, despite the presence of the Y chromosome and of the SRY gene, resulting in the development of a female phenotype. DAX1 antagonizes SRY action by acting as a transcriptional repressor and negatively regulating the steroidogenic factor 1 (SF1)-mediated transactivation of numerous genes involved in the development of the hypothalamic-pituitary-adrenal -gonadal axis and in the biosynthesis of steroid hormones and AMH [McElreavey and Fellous, 1999;Zenteno-Ruiz et al, 2001;Iyer and McCabe, 2004;Sanlaville et al, 2004;Niakan and McCabe, 2005;Karkanaki et al, 2007;McCabe, 2007;Smyk et al, 2007;Wilhelm et al, 2007]. This results in absence of testicular development and Wolffian duct derivatives but normal M€ ullerian structures (uterus, vagina) [Sanlaville et al, 2004].…”

Section: Discussionmentioning

confidence: 99%

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

Zárate

Dwivedi

Bartel

et al. 2010

American J of Med Genetics Pt A

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Translocations involving the short arms of the X and Y chromosomes are rare and can result in a functional disomy of the short arm of the X chromosome, including the dosage-sensitive sex reversal (DSS) locus. A result of such imbalance may be sex reversal with multiple congenital anomalies. We present the clinical and cytogenetic evaluation of a newborn infant with DSS and additional clinical findings of minor facial anomalies, left abdominal mass, 5th finger clinodactyly, and mild hypotonia. The external genitalia appeared to be normal female. The infant had bilateral corneal opacities and findings suggestive of anterior segment dysgenesis. Ultrasonography showed a small uterus with undetectable ovaries, and a left multicystic dysplastic kidney. High-resolution chromosome analysis identified the presence of a derivative Y chromosome, 47,XY, +der(Y)t(X;Y)(p21.1;p11.2), which was confirmed by fluorescence in situ hybridization studies. Array CGH showed a 35.1 Mb copy number gain of chromosome region Xp22.33-p21.1 and a 52.2 Mb copy number gain of Yp11.2-qter, in addition to the intact X and Y chromosomes. Previously reported patients with XY sex reversal have not had DSS with corneal opacities, dysgenesis of the anterior segment of the eye, and unilateral multicystic dysplastic kidney. These findings represent a new form of XY sex reversal due to an Xp duplication.

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46,XX Sex Reversal

Cited by 64 publications

References 81 publications

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients

46, XX Sry(+) Male Sexual Differentiation Disorder with Metabolic Syndrome: A Case Report

47, XY, +der(Y),t(X;Y)(p21.1;p11.2): A unique case of XY sex reversal

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