Die nosologische Stellung des XO/XY-Mosaizismus

Ra, Pfeiffer; Lambertz, B; Fk, Friederiszick; Distel, Hans; Ih, Pawlowitzki; Nicole, R; Kg, Ober; Ruckes, J

doi:10.1007/bf00668069

Cited by 27 publications

(8 citation statements)

References 89 publications

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“…Clinically and anatomically the four with abnormal X chromosomes do not differ much from the many other patients studied in this laboratory who presented Turner's syndrome (Turner 1938) and a 45,X complement. The three individuals with abnormal Y chromosomes are also much the same clinically as several others we have studied, or the large number now reported (Pfeiffer et al 1968) with so-called asymmetrical or "mixed" gonadal dysgenesis (Sohval 1964). The following section attempts to show that all of these individuals are affected by a single group of disorders, which I refer to as the gonadal dysgeneses.…”

Section: Patientsmentioning

confidence: 57%

Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses

German

1970

Clinical Genetics

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Turner's syndrome and variations of Turner's syndrome including “mixed” gonadal dysgcnesis may be viewed as members of a single group of disorders, the gonadal dysgeneses. Seven patients are described whose various clinical and cytogenetic features make them represcntative of the many individuals with one of the gonadal dysgeneses reported from other clinics. The developmental abnormalities which occur, including dysgenetic gonadal tissue, may be traced to the presence during embryonic life of a monosomic (45, X) or a genetically deficient (e.g., 46, XXqi) cell line, whereas a degree of normal gonadal development in some individuals may he traced to the presence also of normal female or male cells. A unifying explanation for these disorders is presented in terms of a single erroneous chromosomal event occurring after fertilization. Such an event may well be an intrachromosomal rearrangement affecting either an X or a Y, from which may derive a cell line containing a structurally abnormal sex chromosome, a monosomic cell line, or both. The preponderance of affected individuals showing non‐mosaic monosomy (45, X), or the mosaic combination of monosomic cells with cells having a structurally rearranged X or Y chromosome, points to the zygote as the cell in which the disruptive event occurs most often. The less frequent co‐existence of normal diploid cells with abnormal (monosomic or deficient) cells indicates that the disruptive event sometimes occurs in an early postzygotic cell.

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Section: Patientsmentioning

confidence: 57%

Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses

German

1970

Clinical Genetics

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“…These are chromatin-negative individuals with an XO/XX (Dewhurst et al 1965) or an XO/XY Pfeiffer et al 1968;Ponte et al 1967) karyotype, in whom a streak gonad is found which contains very few prim¬ ordial follicles and, in whom clinically, there is no evidence of estrogen secretion. However, some patients with true herma¬ phroditism cannot always be differentiated from patients with MGD.…”

Section: Discussionmentioning

confidence: 99%

Mixed Gonadal Dysgenesis

Zäh¹,

Kalderon²,

Tucci³

1975

Acta Endocrinologica

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“…Dysgenetic gonads may undergo malignant transfor mation [ 17], Gonadoblastoma is the most frequently occurring gonadal tumor in patients with 45.X/46.XY mosaicism [18], The overall risk has been estimated to be 20-25% and increases with age [19], Despite the low malignant tendency of gonadoblastomas [20]. the re moval of abdominal gonads in patients with 45.X/46.XY mosaicism is a widely accepted practice.…”

Section: Discussionmentioning

confidence: 99%

True Hermaphroditism in 45, X/46, XY Mosaicism

Linskens

Odink²,

Linden³

et al. 1992

Horm Res

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This report discusses the clinical findings on two patients with 45, X/46, XY Mosaicism two boys presented with penile hypospadias and cryptorchidism. A dysgenetic ovary and a testis were found in one boy, and a dysgenetic ovaryin the other. Both patients can be considered to be true hermaphrodites on the basis of histology and clinical and hormonal observations. 45, X/46, XY mosaics have a wide range of phenotypic appearances and their gonadal morphology can also show great differences. However, the incidence of true hermaphroditism in individuals with 45, X/46, XY mosaicism is low and the reports in the literature rare. It is likely that males with 45, X/46, XY who suffer only mild maldevelopment of the external genitalia will not be recognized. In all patients with penoscrotal hypospadias and cryptorchidism with 45, X/46, XY mosaicism, the possibility of true hermaphroditism should be considered.

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Die nosologische Stellung des XO/XY-Mosaizismus

Cited by 27 publications

References 89 publications

Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses

Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses

Mixed Gonadal Dysgenesis

True Hermaphroditism in 45, X/46, XY Mosaicism

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