Phenotypic spectrum of 45,X/46,XY individuals

Rosenberg, Carla; Frota‐Pessoa, Oswaldo; Vianna‐Morgante, Angela Maria; Chu, Tzu-Hung; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320270308

Cited by 36 publications

(21 citation statements)

References 17 publications

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“…However, in the case under study, ambiguous external genitalia and hypospadias might be due to mosaicism with 45,X cell line and correlates with previous report (Yanagisawa, 1980). Majority of the earlier cases reported (Davis, 1981;Rosenberg et al, 1987;Casperson et al, 1971;Ayuso et al, 1984;Wheeler et al, 1988) showed neither normal male nor female external genitalia with gonads of either sex.…”

Section: Discussionsupporting

confidence: 83%

“…However, the gonadal tissue of these patients with 45,X/46,X normal or strucural abnormal Y depends on the frequency of cell-lines present in their genome. Majority of these individuals have Turner stigmata, ambiguous external genitalia, hypospadias, dysgenetic ovary, testes, or testis with ovarian stroma (Mailhes et al, 1979;Ayuso et aL, 1984;Rosenberg et al, 1987;Casperson et aL, 1971).…”

Section: Introductionmentioning

confidence: 99%

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Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

1991

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SummaryA 5-year-old male with ambiguous external genitalia, hypospadias and microphallus without an urethral orifice was referred for cytogenetic studies. Exploratory laparotomy revealed presence of an infantile uterus and unilateral gonadal dysgenesis with both testes and fallopian tube on the right side. The metaphase cells from peripheral blood culture showed both 45,X/46,X inverted Y (pll.2qll.23) cell-lines (98:2). The inverted Y was found to be of paternal origin. Maternal chromosomal pattern was normal 46,XX. The presence of a fallopian tube next to testis suggest absence of secretion of anti-Mullerian hormone by Sertoli cells. The absence of Wolffian duct derivatives suggest insufficient secretion of testosterone by Leydig cells.

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Section: Discussionsupporting

confidence: 83%

Section: Introductionmentioning

confidence: 99%

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

1991

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“…dIscussIon 45,X/46,XY children present as Turner-like syndrome having bilateral streak gonads with mullerian structures and TS stigmata, as mixed gonadal dysgenesis with a unilateral testis, a contralateral streak gonad and mullerian structures, as males having bilateral testes (any combination of dysgenetic or normal testes) but with mullerian structures and signs of decreased virilization, or as normal males having bilaterally descended testes and normal male genitalia. [1][2][3][4] ated on at 12 years of age. Non-verbal learning disabilities, mainly in mathematics, were reported and a tendency for low self-esteem.…”

Section: Case Reportmentioning

confidence: 99%

45,X/46,XY mosaicism: a cause of short stature in males

Efthymiadou¹,

Stefanou²,

Chrysis³

2012

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45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals with a 45,X/46,XY karyotype is sexual ambiguity, accounting for approximately 60% of cases, while the least common category of 45,X/46,XY patients consists of those with bilaterally descended testes, found in 11-12%. We report on two patients with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of short stature. Both of these boys presented at the age of 15 years with short stature, minor Turner-like stigmata, normal male external genitalia and spontaneous pubertal development. One of them had coarctaction of the aorta with bicuspid aortic valve, an uncommon clinical feature in boys with mosaicism. The same patient underwent a trial of GH replacement therapy with poor response and his sperm analysis revealed azoospermia. Like our patients, most mosaic 45,X/46,XY children with bilateral scrotal testes go unrecognised at birth and throughout childhood unless they have somatic features of Turner syndrome or significant growth retardation. We recommend that boys with otherwise unexplained short stature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls. In addition, boys with 45,X/46,XY mosaicism require a thorough clinical evaluation similar to that performed in girls with Turner syndrome and must be routinely followed up for their potential to respond favorably to GH treatment and for late onset abnormalities, such as infertility and gonadal tumors.

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“…Conversely, 45,X/46,XY mixed gonadal dysgenesis (MGD) is less characterized. Patients with a 45,X/46,XY karyotype, detected in 1.7/10 000 newborns (4), can present various phenotypes, including females with Turner's syndrome (TS) phenotype, newborns with ambiguous genitalia, usually called MGD (4), and normal male development (5,6,7,8,9,10). Gender assignment followed by surgery and hormonal therapy is difficult in the management of 45,X/46,XY patients with abnormal external genitalia at birth.…”

Section: Introductionmentioning

confidence: 99%

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

Martinerie

Morel²,

Pienkowski³

et al. 2012

European Journal of Endocrinology

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Context: Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external genitalia at birth considering the paucity of studies evaluating pubertal development and fertility outcome, most notably for patients raised as boys. Objective: The purpose of this study was to describe the pubertal course of 20 45,X/46,XY patients born with ambiguous genitalia and raised as boys. Methods: This is a multicenter retrospective study. Results: Mean age at study was 25.6G2.4 years. Eighty-five percent of the patients presented a 'classical' mixed gonadal dysgenetic phenotype at birth. Puberty was initially spontaneous in all but three boys, although in six other patients, testosterone therapy was subsequently necessary for completion of puberty. Sixty-seven percent of the remaining patients presented signs of declined testicular function at the end of puberty (increased levels of FSH and low levels of testosterone and/or inhibin B). Moreover, an abnormal structure of the Y chromosome, known to alter fertility, was found in 10 out of 16 (63%) patients. Two patients developed testicular cancer. Half of the patients have adult penile length of !80 mm. Mean adult height is 156.9G2 cm, regardless of GH treatment. Conclusions: In summary, 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course and impaired fertility associated with adult short stature, which should, therefore, be taken into consideration for the management of these patients.

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Phenotypic spectrum of 45,X/46,XY individuals

Cited by 36 publications

References 17 publications

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

Unilateral gonadal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X INV (Y) mosaic male

45,X/46,XY mosaicism: a cause of short stature in males

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

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