Clinical traits and molecular findings in 46,XX males

López, Marisol; Torres, Leda; Méndez, Juan Pablo; Cervantes, Alicia; Pérez‐Palacios, Gregorio; Erickson, Robert P.; Alfaro, G; Kofman‐Alfaro, Susana

doi:10.1111/j.1399-0004.1995.tb04050.x

Cited by 38 publications

(12 citation statements)

References 30 publications

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“…Y sequences are usually translocated to the distal tip of the short arm of the paternal X chromosome or to an autosome. 48,49,51 However, in 10% of subjects with testicular DSD, SRY is negative, although patients present with different degrees of masculinization. The etiology of sex reversal in these cases is still unclear: mutations in a yet unknown X-linked or autosomal gene involved in testis differentiation or a hidden Y chromosome mosaicism limited to the gonad have been suggested.…”

Section: A Disorders Of Gonadal (Ovarian) Developmentmentioning

confidence: 99%

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Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals

Kousta¹,

Papathanasiou²,

Skordis³

2010

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There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DsD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DsD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DsD, previously named true hermaphroditism, testicular DsD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

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Section: A Disorders Of Gonadal (Ovarian) Developmentmentioning

confidence: 99%

“…Approximately 10-15% show various degrees of hypospadias. 49 Subjects with testicular 46,XX DSD differ from 46,XX ovotesticular individuals, as they have no ovarian tissue. They are often short, with azoospermia and with a high incidence of maldescended testes.…”

Section: A Disorders Of Gonadal (Ovarian) Developmentmentioning

confidence: 99%

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals

Kousta¹,

Papathanasiou²,

Skordis³

2010

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“…Some XX males may have normal internal and external male gonads [14], whereas others may have small testes, abnormal secondary sexual characteristics [6], and hypospadias [15][16][17]. Most men are diagnosed in adulthood due to infertility caused by azoospermia [6].…”

Section: Introductionmentioning

confidence: 99%

Genetic characterization of two 46,XX males without gonadal ambiguities

Minor

Mohammed

Farouk

et al. 2008

J Assist Reprod Genet

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Purpose To evaluate hypotheses which explain phenotypic variability in sex determining region Y positive 46,XX males. We investigate two 46,XX males without gonadal ambiguities. Methods Cytogenetic and molecular analyses were used to identify the presence of Y chromosome material and to map the translocation breakpoint. Finally, the pattern of X chromosome inactivation was studied using the methylation assay at the androgen receptor locus.Results The presence of Y chromosome material, including the sex determining region Y gene, was demonstrated in both men. However, the amount of translocated Y chromosome material differed between the patients. Different X chromosome inactivation patterns were found in the patients; random in one patient and non-random in the other. ConclusionsWe found a lack of association between phenotype and X chromosome inactivation pattern. Our cytogenetic and molecular analyses show support for the position effect hypothesis explaining the phenotypic variability in XX males.

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“…However, they classically are described as normal males in whom the condition is diagnosed in adulthood because of infertility, suggesting that this disorder could be more frequent than previously estimated. Hypergonadotropic hypogonadism occurs during adulthood as a result of decreasing T levels after puberty, and gynecomastia and microrchidia are frequently found (2). XX males can be classified into two categories according to the presence or absence of the SRY gene.…”

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confidence: 99%