Hostname: page-component-cd9895bd7-jn8rn Total loading time: 0 Render date: 2024-12-25T02:22:55.717Z Has data issue: false hasContentIssue false
  • English
  • Français

Discordant gonadal hypogenesis in apparently MZ twins

Published online by Cambridge University Press:  01 August 2014

U. Bigozzi ,
A. Borghi ,
M. Salti  and
G. Giusti
U. Bigozzi
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II
A. Borghi
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II
M. Salti
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II
G. Giusti
Affiliation:
Istituto di Patologia Speciale Medica e Metodologia Clinica I Università di Firenze, (Italia) Istituto di Patologia Speciale Medica e Metodologia Clinica II

Summary

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

A case of probably MZ twin girls is reported, one of which presenting a serious gonadal hypoplasia, macroschelia and a number of slight malformations, while the other appeared perfectly normal. Both twins presented positive sex-chromatine and a normal karyotype, i. e. 44 A + XX.

After a review of twin cases of the « rudimentary gonad syndrome » — which may differ as to its origin, according to the various cases — the present case, the anomalies exhibited by one of the twins are probably the result of the action of a number of noxae, in the course of embryological or fetal life.

Résumé

RÉSUMÉ

Les Auteurs décrivent deux jumelles, très vraisemblablement monozygotiques; l'une présentant une sérieuse hypogénésie ovarienne, macroskélie et quelques malformations congénitales, tandis que l'autre paraît tout-à-fait normale. Toutes les deux ont chromatine sexuelle positive et karyotype féminin normal, 44 A + XX.

Après une révue synthétique des couples jumelaires atteints du « syndrome des gonades rudimentaires » signalés dans la littérature, (dont la pathogénèse peut être très différente selon les cas), les Auteurs envisagent la possibilité que, dans ce cas, les anomalies observées chez l'une des deux jumelles soient imputables à des noxae qui auraient expliqué leuc action pendant la vie embryonnaire ou fœtale.

Zusammenfassung

ZUSAMMENFASSUNG

Verf. beschreiben ein wahrscheinlich eineiiges weibliches Zwillingspaar: eine davon wies eine schwere Gonadenhypogenesie mit Makroskelie und bescheidenen Missbildungsanzeichen auf, während die andere — wenigstens dem Anschein nach — völlig normal war. Bei beiden Paarlingen war das Kernchromatin positiv und der Karyotyp 44 A + XX.

Nach kurzem kritischem Überblick über die Zwillingsfälle mit « Rudimentärgonaden-Syndrom » kommen Verf. zu dem Schluss, dass bei dem von ihnen vorgetragenen Zwillingspaar die bei einem Paarling festgestellten Anomalien wahrscheinlich auf die Aktion von irgendwelchen Noxen im Laufe des Embryonal- oder wenigstens des Fötallebens zurückzuführen sind.

Riassunto

Riassunto

Gli AA. descrivono una coppia di gemelle, verosimilmente MZ, una delle quali presentava una grave ipogenesia gonadica, con macroschelia e modeste note malformative; mentre l'altra è, almeno in apparenza, del tutto normale. Ambedue le gemelle hanno cromatina nucleare positiva e cariotipo 44 A + XX.

Dopo un rapido esame critico dei casi gemellari di « sindrome della gonade rudimentaria » — la cui genesi può essere molto diversa da caso e caso — gli AA. concludono affermando che nella coppia da loro segnalata le anomalie rilevate in una delle gemelle sono verosimilmente imputabili all'azione di noxae agenti nel corso della vita embrionale o, quanto meno, fetale.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 2 , April 1966 , pp. 199 - 207
Copyright
Copyright © The International Society for Twin Studies 1966

References

Bibliografia

Borghi, A., Giusti, G. (1965). Aberrazioni cromosomiche e anomalie congenite del sesso. Ed. Omnia Medica, Pisa.Google Scholar
Christiaens, L. et al. (1961). Du Status Bonnevie-Ullrich au syndrome de Turner-Albright. (Apport de l'étude caryotypique). Sem. Hop., 37: 3481.Google Scholar
Decourt, J. et al. (1964). Syndrome de Turner haplo-X typique chez deux jumelles monozygotes. Ann, Endocr., 25: 438.Google Scholar
Edwards, J. H. et al. (1963). Dati non pubblicati, In Lindsten, J. et al. Lancet, 1: 558.Google Scholar
Frasier, S. et al., Ashore, R. (1961). Chromatin-negative twins with female phenotype, gonadal dysgenesis and gonadoblastoma: chromosome evaluation. Amer. J. Dis. Child., 102: 582.Google Scholar
Frasier, S. et al. (1964). Gonadoblastoma with pure gonadal dysgenesis in monozygous twins. J. Pediat., 64: 740.CrossRefGoogle ScholarPubMed
Granrud, H. (1952). Syndrome Turner. Et tilfelle med familiaer belastning. Nordisk Med., 47: 314.Google Scholar
Guaraldi, G. P. (1962). Complicanza neurologica da cisti aracnoidea in soggetto con « sindrome dello pterigio ». G. Psichiat. Neumpat., 90: 699.Google Scholar
Heni, F. (1951). Die Morgagni-Turner Syndrom. Klin. Wschr., 29: 75.Google Scholar
Klempman, S. (1964). The investigation of developmental sexual abnormalities. S. Afr. Med. J. 38: 234.Google Scholar
Lejeune, J., Turpin, R. (1961). Détection chromosomique d'une mosaïque artificielle humaine. C. R. Acad. Sci., Paris, 252: 3148.Google Scholar
Lemli, L., Smith, D. W. (1963). The XO syndrome: a study of the differentiated phenotype in 25 patients. J. Pediat., 63: 577.Google Scholar
Lindsten, J. et al. (1963). Presumptive isochromosome for the long-arm of X in man. Analysis of five families. Ann. Hum. Genet., 26: 383.Google Scholar
Mikkelsen, M. et al. (1963). XX/XO mosaicism in a pair of presumably monozygotic twins with different phenotypes. Cytogenetics, 2: 86.Google Scholar
Morganti, G. et al. (1963). La secrezione paradossale nei gemelli. Proc. 2nd Intern. Gong. Hum. Genet., Ed. Ist. Mendel.Google Scholar
Natoli, A., De Petrini, P. (1957). Infantilismo con ipergonadotropinuria da aplasia delle gonadi. Riforma Med., 71: 917.Google Scholar
Solis, J., Schwartz, M. M. (1951). Syndrome de gonadas rudimentarias, baja estatura, cuello corto y cubitus valgus (Sindrome de Turner). Rev. Med., Rosario, 41: 222.Google Scholar
Turner, H. H., Zanartu, J. (1962). Ovarian dysgenesis in identical twins: discrepancy between nuclear chromatin pattern in somatic cells and in blood cells. J. Clin. Endocr. Metab. 22: 660.Google Scholar
Turpin, R. et al. (1961). Présomption de monozygotisme en dépit d'un dimorphisme sexuel: sujet masculin XY et sujet neutre haplo-X. C. R. Acad, Sci., Paris, 252: 2945.Google Scholar