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Die nosologische Stellung des XO/XY-Mosaizismus

The nosologic place of the XO/XY mosaicism

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Summary

The manifestations of XO/XY mosaicism and allied conditions, which are far from being rare, are examplified by 5 personal observations among which are monozygotic twins. The cases collected from the literature are classified into three groups.

A. Bilateral testicular dysgenesis associated with normal male or even female genitalia. More frequently there are hypospadias or an intersexual state. Several examples of the socalled male Turner's syndrome are found in this group. Malignancy of intraabdominal testes is known.

B. Asymmetrical differentiation of gonads what we call ovariantesticular dysgenesis is associated with intersexual genitalia as a rule (hemiscrotum, labioscrotal folds, hypertrophy of the clitoris, sinus urogenitalis). The gonoducts are developed in relation with the homolateral gonads.

C. Ovarian dysgenesis is correlated with Turner's syndrome, a male phenotype is exceptional.

These clinical syndromes have been observed without chromosomal mosaicism. Because of their resemblance with the pure gonadal dysgenesis, the syndrome of testicular feminisation and Turner's syndrome, they cannot be delineated on the basis of clinical symptoms only. XO/XY mosaicism represents an etiological but no clinical entity.

True hermaphroditism is not seen since the oogenesis is arrested at an early stage of development.

Zusammenfassung

Die Manifestationen des häufigen Mosaiks XO/XY (und anderer ähnlicher Mosaike), durch 5 eigene Beobachtungen dokumentiert, werden in 3 Klassen eingeteilt:

A. Die doppelseitige testiculäre Dysgenesie findet sich (selten) bei normalem männlichem oder weiblichem Genitale; häufiger besteht eine Hypospadie oder ein intersexuelles Genitale. Unter diesen Fällen sind einige Beispiele des sog. männlichen Turner-Syndroms. Maligne Entartung intraabdominaler unreifer Testes ist bekannt.

B. Die asymmetrische Gonadendifferenzierung, von uns als ovariell-testiculäre Dysgenesie bezeichnet, ist in der Regel mit einem intersexuellen äußeren Genitale vergesellschaftet (Hemiscrotum, Labioscrotalfalten, Clitorishypertrophie, Sinus urogenitalis). Die Gonodukte sind entsprechend den zugeordneten Gonaden ausgebildet.

C. Die ovarielle Dysgenesie drückt sich nur ausnahmsweise in Zeichen der Vermännlichung aus. Merkmale des Turner-Syndroms sind häufig.

Die Literaturfälle sind nach dem cytogenetischen Befund in 2 Tabellen analysiert. Zeitpunkt und Ursache der Mosaikbildung sind noch nicht geklärt.

Diese Erscheinungsbilder werden auch ohne chromosomales Mosaik beobachtet. Ihre Ähnlichkeit mit der reinen Gonadendysgenesie, der testiculären Feminisierung und dem Turner-Syndrom erschweren die Abgrenzung aufgrund phänotypischer Kennzeichen allein.

Es handelt sich deshalb nicht um eine klinische, sondern um eine ätiologische Einheit.

Echter Hermaphroditismus wird bei diesem Mosaik nicht beobachtet, weil die Oogenese auf einer primitiven Stufe zurückgeblieben ist.

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Authors and Affiliations

  1. Institut für Humangenetik der Westfälischen Wilhelms-Universität Münster, Münster

    R. A. Pfeiffer, B. Lambertz, F. K. Friederiszick, H. Distel, I. H. Pawlowitzki, R. Nicole, K. G. Ober & J. Ruckes

  2. Kinderkliniken der Universitäten Mainz, Mainz

    R. A. Pfeiffer, B. Lambertz, F. K. Friederiszick, H. Distel, I. H. Pawlowitzki, R. Nicole, K. G. Ober & J. Ruckes

  3. Kinderkliniken der Universitäten Erlangen, Erlangen

    R. A. Pfeiffer, B. Lambertz, F. K. Friederiszick, H. Distel, I. H. Pawlowitzki, R. Nicole, K. G. Ober & J. Ruckes

  4. Kinderkliniken der Universitäten Basel, Basel

    R. A. Pfeiffer, B. Lambertz, F. K. Friederiszick, H. Distel, I. H. Pawlowitzki, R. Nicole, K. G. Ober & J. Ruckes

  5. Universitäts-Frauenklinik Erlangen, Erlangen

    R. A. Pfeiffer, B. Lambertz, F. K. Friederiszick, H. Distel, I. H. Pawlowitzki, R. Nicole, K. G. Ober & J. Ruckes

  6. Pathologisches Institut der Universität Mainz, Mainz

    R. A. Pfeiffer, B. Lambertz, F. K. Friederiszick, H. Distel, I. H. Pawlowitzki, R. Nicole, K. G. Ober & J. Ruckes

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  1. R. A. Pfeiffer
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Die cytogenetischen Untersuchungen wurden mit Unterstützung der Deutschen Forschungsgemeinschaft durchgeführt.

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Pfeiffer, R.A., Lambertz, B., Friederiszick, F.K. et al. Die nosologische Stellung des XO/XY-Mosaizismus. Arch. Gynak. 206, 369–410 (1968). https://doi.org/10.1007/BF00668069

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