46, XX male sex reversal syndrome: a case report and review of the genetic basis

Wang, T.; Liu, J. H.; Yang, Juan; Chen, J.; Ye, Z. Q.

doi:10.1111/j.1439-0272.2008.00889.x

Cited by 44 publications

(39 citation statements)

References 9 publications

(10 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Therefore, it is difficult to find 46,XX testicular DSD males before puberty. Our cases had no sexual ambiguities and were diagnosed after puberty [Wang et al 2009]. Occasionally, SRY-positive XX males have sexual ambiguity despite having the SRY gene depending on the amount of material of Yp transferred to the X chromosome [Kusz et al 1999;Queipo et al 2002].…”

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

View full text Add to dashboard Cite

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.

show abstract

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

View full text Add to dashboard Cite

show abstract

“…Ovotesticular DSD, an important differential diagnosis, was ruled out in the patient after gonadal biopsy. During puberty, testosterone levels are normal evolving, in adulthood, to hypergonadotrophic hypogonadism (6,7,10,15,18). Some authors evidenced a deficient testosterone production after β-hCG stimulation test; whereas, others reported a normal testosterone production by the Leydig cells, although not ruling out the possibility of a testosterone deficiency during adulthood (3,10).…”

Section: Discussionmentioning

confidence: 96%

“…On basis of the analysis and detection of SRY gene, 46, XX male patients can be clinically divided into SRY-positive and the SRY-negative groups (6,7). SRYpositive individuals usually have normal male genitalia, small azoospermic testes and hypergonadotropic hypogonadism (8), and most carry the SRY gene translocated to the X chromosome during paternal meiosis (7,9); however, SRY autosomal translocations have also been reported in some XX males (10)(11)(12). The diagnosis of SRY-positive patients is usually achieved in adulthood during infertility investigation (3).…”

Section: Introductionmentioning

confidence: 99%

46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

Alves

Braid

Coeli

et al. 2010

Arq Bras Endocrinol Metab

View full text Add to dashboard Cite

SUMMARYThe XX male syndrome -Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene. Arq Bras Endocrinol Metab. 2010;54(8):685-9 SUMÁRIO A síndrome do homem XX é uma condição rara na qual o fenótipo da genitália externa pode variar de uma genitália ambígua até uma genitália masculina normal. Este estudo tem por objetivo relatar a avaliação hormonal, molecular e citogenética de um menino com essa síndrome. O exame da genitália externa na idade de 16 meses mostrava: pênis medindo 3,5 cm, hipospadia proximal e testículos tópicos. A ultrassonografia pélvica não visualizou estruturas mullerianas. Cariótipo foi 46,XX. A testosterona sérica não se elevou após o teste de estímulo com gonadotrofina. Biópsias gonadais mostraram túbulos seminíferos, sem evidência de células de Leydig. Estudos moleculares revelaram ausência dos genes SRY, TSPY e DYZ3, bem como ausência de deleção ou duplicação das regiões SOX9, NR5A1, WNT4 e NROB1. A criança era heterozigótica para todos os microssatélites da região 9p, incluindo o gene DMRT1. Apenas 10% dos pacientes com a síndrome do homem 46,XX são SRY-negativos. Nesses casos, a genitália geralmente é ambígua, como corroborado pelo paciente do presente relato. A masculinização incompleta sugere ganho de mutação funcional em um ou mais genes a jusante do gene SRY. Arq Bras Endocrinol Metab. 2010;54(8):685-9

show abstract

“…While the clinical symptoms of XX male patients often show some degree of heterogeneity [Ergun-Longmire et al, 2005], usually, the development of genitalia is normal and masculinity signs are obvious in SRY gene-positive patients [Wang et al, 2009]. Development of the genitals and sex psychology was described to be normal as well as erection and ejaculation, and there are almost no significant signs except cryptorchidism before puberty in most of the patients [Wang et al, 2009].…”

Section: Men With a 46xx Karyotype Including Patients With Ambiguousmentioning

confidence: 99%

“…Sex reversal syndrome (SRS) is a human genetic disease, which is characterized by inconsistency between gonadal sexuality and chromosome sexuality and includes 46,XY females and 46,XX males [Wang et al, 2009]. The XX male SRS, also called de la Chapelle syndrome, was first characterized in 1972 [de la Chapelle, 1972].…”

Section: Men With a 46xx Karyotype Including Patients With Ambiguousmentioning

confidence: 99%

Chromosomal Variants in Klinefelter Syndrome

Frühmesser

Kotzot²

2011

Sex Dev

View full text Add to dashboard Cite

Klinefelter syndrome (KS) describes the phenotype of the most common sex chromosome abnormality in humans and occurs in one of every 600 newborn males. The typical symptoms are a tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia, small testes, absent spermatogenesis, normal to moderately reduced Leydig cell function, increased secretion of follicle-stimulating hormone, androgen deficiency, and normal to slightly decreased verbal intelligence. Apart from that, amongst others, osteoporosis, varicose veins, thromboembolic disease, or diabetes mellitus are observed. Some of the typical features can be very weakly pronounced so that the affected men often receive the diagnosis only at the adulthood by their infertility. With a frequency of 4%, KS is described to be the most common genetic reason for male infertility. The most widespread karyotype in affected patients is 47,XXY. Apart from that, various other karyotypes have been described, including 46,XX in males, 47,XXY in females, 47,XX,der(Y), 47,X,der(X),Y, or other numeric sex chromosome abnormalities (48,XXXY, 48,XXYY, and 49,XXXXY). The focus of this review was to abstract the different phenotypes, which come about by the various karyotypes and to compare them to those with a ‘normal’ KS karyotype. For that the patients have been divided into 6 different groups: Klinefelter patients with an additional isochromosome Xq, with additional rearrangements on 1 of the 2 X chromosomes or accordingly on the Y chromosome, as well as XX males and true hermaphrodites, 47,XXY females and Klinefelter patients with other numeric sex chromosome abnormalities. In the latter, an almost linear increase in height and developmental delay was observed. Men with an additional isochromosome Xq show infertility and other minor features of ‘normal’ KS but not an increased height. Aside from the infertility, in male patients with other der(X) as well as der(Y) rearrangements and in XXY women no specific phenotype is recognizable amongst others due to the small number of cases. The phenotype of XX males depends on the presence of SRY (sex-determining region Y) and the level of X inactivation at which SRY-negative patients are generally rarely observed.

show abstract

46, XX male sex reversal syndrome: a case report and review of the genetic basis

Cited by 44 publications

References 9 publications

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

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

46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

Chromosomal Variants in Klinefelter Syndrome

Contact Info

Product

Resources

About