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« Pure Gonadal Dysgenesis » with a 44 A + xx karyotype in two daughters from consanguineous parents

Published online by Cambridge University Press:  01 August 2014

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

Summary

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A case of two daughters of consanguineous parents, one with « pure gonadal dysgenesis », and the other with severe ovarian hypogenesis are reported. Both patients have positive nuclear pattern, and normal feminine karyotype, i e. 44 A + xx.

After reviewing the literature on familiar cases of « rudimentary gonads syndrome », the AA. suggest that the genetic mechanisms involved are different, according to the clinical picture and the chromosomal constitution.

In the few cases of classical Turner's syndrome with xo karyotype, a repetition of a chromosomal nondisjunction, during maternal or paternal gametogenesis, can be accepted. The cases of chromosomal mosaicism are probably related to an anomalous mitotic division of normal zygotes which takes place in the same woman, in the course of more than one pregnancy.

Various interpretations can be given to the cases of familiar pure gonadal dysgenesis. Since the patients show more often a normal feminine or masculine karyotype, the possibility that the anomaly is bound to an autosomal recessive gene has been suggested (see Hauser's case, 1960, in which, as well as in the one here reported, the parents were consanguineous).

Other possibilities are not to be underestimated: an early lesion of the gonads by environmental maternal factors, also in subjects with different genetic sex, should be taken into account.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 15 , Issue 1 , January 1966 , pp. 51 - 68
Copyright
Copyright © The International Society for Twin Studies 1966

References

Bibliografia

Aslev, J., Reinwein, H. (1958). Ueber das familiäres Vorkommen des sogenannten Ullrich-Turner Syndroms und Vorhandersein eines Pterygium colli, eines Kryptorchismus und des Meiges Syndroms bei zwei Brüdern mit kongenitalen Vitien. Deutsch Med. Wschr., 83: 601.CrossRefGoogle Scholar
Baron, J. et al. (1962). Familial gonadal malformations. Gynaecologia, 153: 298.Google Scholar
Bassøe, H. H. (1956). Familial congenital muscular dystrophy with gonadal dysgenesis. J. Clin. Endocr. Metab., 16: 1614.Google Scholar
Bassøe, H. H. et al. (1958). Nuclear sex in familial gonadal dysgenesis. Acta Endocr., 28: 389.Google ScholarPubMed
Bioozzi, U. et al. (1965). Ipogenesia gonadica discordante in gemelle monozigotiche. A.Ge.Me.Ge. In corso di pubblicazione.Google Scholar
Boehncke, H., Lenz, W. (1961). Ullrich-Turner Syndrom bei zwei Schwestern. Z. Kinderheilk., 85: 197.CrossRefGoogle Scholar
Bompiani, A. (1961). La sindrome della gonade rudimentale congenita in soggetti a fenotipo femminile. Ann. Ostet. Ginec., 83: 595.Google Scholar
Borghi, A., Giusti, G. (1965). Aberrazioni cromosomiche e anomalie congenite del sesso. Ed. Omnia Medica, Pisa.Google Scholar
Brøgger, A., Strand, A. (1965). Contribution to the study of the so-called pure gonadal dysgenesis. Acta Endocr., 48: 490.Google Scholar
Cohen, M. M., Shaw, M. W. (1965). Two XY siblings with gonadal dysgenesis and a female phenotype. New Engl. J. Med., 272: 1083.Google Scholar
Conca, G., Kehyayan, E. (1960). Un caso di sindrome di Turner. Minerva Pediat., 12: 1187.Google Scholar
Conte, M. et al. (1958). Impubérisme avec eunuchoïdisme hypergonadotrophique, dystrophies associées, sexe gonophorique féminin, agénésie gonadique et sexe génétique mâle. Bull. Mem. Soc. Med. Hop., 74: 596.Google Scholar
Del Sol, J. (1955). Sindrome de Turner (presentación de tres casos). Tokoginec Pract., 14: 242.Google Scholar
Del Sol, J. (1955). Agenesia ovarica con alteración somatica y del desarrollo. Acta Ginec, 6: 211.Google Scholar
Desclaux, P. et al. (1952). Syndrome de Turner avec troubles mentaux. Ann. Endocr., 13: 670.Google Scholar
Elliott, G. A. et al. (1959). Gonadal dysgenesis in three sisters. J. Clin. Endocr. Metab., 19: 995.Google Scholar
Engel, E., Forbes, A. P. (1965). Cytogenetic and clinical findings in 48 patients with congenitally defective or absent ovaries. Medicine, 44: 135.Google Scholar
Fine, G. et al. (1962). Gonadoblastoma occurring in a patient with familial gonadal dysgenesis. Amer J. Clin. Path., 38: 615.Google Scholar
Frawley, J. M. (1925). Congenital webbing of the neck in sisters. Amer J. Dis. Child., 28: 781.Google Scholar
Granrud, H. (1952). Syndrome Turner. Et tilfelle med familiaer belastning. Nordisk Med., 47: 314.Google Scholar
Hauser, G. A. et al. (1960). XX-chromosomale Gonadendysgenesie mit Granulosa-Thekazell-Tumor und Feminisierung. Schweiz. Med. Wschr., 90: 1486.Google Scholar
Hauser, G. A. in Overzier, C. (1963). Intersexuality. Academic Press – London & New York.Google Scholar
Huguenin, A. (1950). Agénésie utéro-ovarienne et dystrophies osseuses congénitales (syndrome de Turner). Algerie Med., 54: 161.Google Scholar
Izakovič, (1960). Gonadal dysgenesis in two sisters with male sex pattern and female characteristic in morphonuclear leukocytes. J. Clin. Endocr. Metab. 20: 1301.CrossRefGoogle Scholar
Johnston, A. W., Petrakis, J. K. (1963). Mongolism and Turner's syndrome in the same sibship. Ann. Hum. Genet. 26: 407.Google Scholar
Josso, N. et al. (1963). Le syndrome de Turner familial. Etude de deux familles avec caryotypes XO et XX. Ann. Pediat., 39: 163.Google Scholar
Kaijser, K. (1949). Sexual infantilism with rudimentary ovaries. Acta Endocr., 3: 351.Google Scholar
Kaijser, K. et al. (1959). Gonadal dysgenesis. An analysis of 15 cases. Acta Soc. Med. Upsaliensis, 64: 502.Google Scholar
Klotz, P. (1952). Phénomènes de progression et de régression au cours de l'évolution phylogénique des endocrinopathies héréditaires. Sem. Hop., 28: 925.Google Scholar
Klotz, P. et al. (1956). Syndrome de Turner chez deux sœurs issues de cousins germains. Considérations pathogéniques. Ann. Endocr., 17: 43.Google Scholar
Klotz, P. et al. (1959). Le syndrome « ovaires non fonctionnels, infantilisme génital et sexe chromosomique mâle». Sem. Hop., 35: 3230.Google Scholar
Larizza, P. et al. (1956). La sindrome di Turner (sindrome dell'ovaio rudimentario). Medicina, 6: 1.Google Scholar
Lenz, W. Osservazioni non pubblicate.Google Scholar
Lindsten, J. (1963). The nature and origin of X-chromosome aberrations in Turner's syndrome. A cytogenetical study of 57 patients. Almqvist & Wiksell, Stockholm.Google Scholar
Lovel, K. (1952). Dwarfism, microcephaly and splenomegaly. Proc. Roy. Soc. Med., 45: 589.Google Scholar
Orcoyen, : in discussione con Del Sol J.Google Scholar
Perrault, M. el al. (1951). Deux cas de syndrome de Turner avec surdimutité chez une même fratrie. Bull. Mem. Soc. Med. Hop., 67: 79.Google Scholar
Reiner, I., Grnja, S. (1955). Familiäres und männliches Vorkommen des Turner-Albright-Syndroms. Aerzt. Wschr., 10: 1039.Google Scholar
Rossi, E., Caflish, A. (1951). Le syndrome du pterygium. Helv. Paediat. Acta, 6: 119.Google Scholar
Russel, A., Swyer, G. I. (1952). Congenital ovarian aplasia with minimal evidence of Ullrich-Bonnevie syndrome. Proc. Roy. Soc. Med., 45: 596.CrossRefGoogle Scholar
Schneider, R. W., Mc Cullagh, E. P. (1943). Infantilism, congenital webbed neck and cubitus valgus (Turner's syndrome). Clev. Clin. Quart., 10: 112.Google Scholar
Schönenberg, H. et al. (1957). Das klinische Bild und das chromosomale Geschlecht der Gonadendysgenesie an Hand von 15 eigenen Beobachtungen. Z. Kinderheilk., 79: 383.Google Scholar
Shermann, J., Renzo, M. (1950). Turner's syndrome in two sisters. J.A.M.A., 144: 484.Google Scholar
Silver, H. K., Kempe, C. H. (1953). Ovarian agenesis (congenitally aplastic ovaries). Amer J. Dis. Child., 85: 5.Google ScholarPubMed
Stange, H. H. (1963). Die Morphologie der fehlgebildeten und fehlgesteuerten weiblichen Keimdrusen. Arch., Gynäk., 198: 329.Google Scholar
Teodori, U. (1957). Problemi di genetica medica in campo endocrinologico. VII Congr. Soc. Ital. Endocr. Firenze.Google Scholar
Therman, E. et al. (1961). The D-trisomy syndrome and XO gonadal dysgenesis in two sisters. Amer. J. Hum Genet., 13: 193.Google Scholar
Vague, J. et al. (1956). Agénésie gonadale avec ébauche de hypertrichose et de hyperclitoridie, et chromatine sexuelle femelle chez deux sœurs. Ann. Endocr., 17: 863.Google Scholar
Vague, J. et al. (1958). Infantilo-nanisme chez deux sœurs. Ovaires filiformes et agénésie gérminale chez l'une, ovaires infantiles chez l'autre. Ann. Endocr., 19: 139.Google Scholar
Varney, R. F. et al. (1942). An association of short stature, retarded sexual development and high urinary gonadotropin titers in women. J. Clin. Endocr., 2: 137.Google Scholar
Zellweger, H., Mikamo, K. (1961). Autosomal cytogenetics. Helv. Paediat. Acta, 16: 670.Google Scholar
Zunin, C. (1953). Lo status Bonnevie-Ullrich. Considerazioni cliniche e patogenetiche di 12 casi. Minerva Pediat., 5: 1177.Google Scholar