Hostname: page-component-586b7cd67f-tf8b9 Total loading time: 0 Render date: 2024-11-23T12:03:11.102Z Has data issue: false hasContentIssue false

Gonadal Dysgenesis With a Familial Character

Published online by Cambridge University Press:  01 August 2014

A. M. D. Serban
Affiliation:
Institutul de Endocrinologie “C. I. Parhon”, Bucuresti
B. Ionescu
Affiliation:
Institutul de Endocrinologie “C. I. Parhon”, Bucuresti
M. Ciovîrnache
Affiliation:
Institutul de Endocrinologie “C. I. Parhon”, Bucuresti
A. Damian
Affiliation:
Institutul de Endocrinologie “C. I. Parhon”, Bucuresti
C. Maximilian
Affiliation:
Institutul de Endocrinologie “C. I. Parhon”, Bucuresti

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.

The Authors report on a case of congenital anorchidism, confirmed by laparatomy, with negative sexual chromatin and an XY karyotype. One of his two sisters, with primary amenorrhea, presented marked hypoplasia of the genital tract, positive sexual chromatin and in 3% of the cells with 2 chromatine corpuscles, XO/XX/XXX karyotype. The presence in the same family of two cases of gonadal dysgenesis appears to have occurred by mere chance.

Type
Research Article
Copyright
Copyright © The International Society for Twin Studies 1966

References

Andreani, D. (1961). La Patologia dell'Apparato Genitale Maschile. In. Gedda, L.: De Genetica Medica, Ed. 1st. Mendel, Roma.Google Scholar
Aslev, J., Reinwein, H. (1958). Über das familiäres Vorkommen des sogenannten Ullrich-Turner Syndroms und das Vorkandersein eines pterggium colli, eines Kryptorchismus und des Meiges Syndroms bei zwei Brüdern mit Kongenitalen vitien. Deutsch. Med. Wschr., 85: 601.CrossRefGoogle Scholar
Bassoe, H. H. (1956). Familial congenital muscular dystrophy with gonadal dysgenesis. J. Clin. Endocr. Metab., 16: 1614.Google Scholar
Baulieu, E. E. et al. (1961). Méthode simple d'hydrolyse et d'analyse chromatografique des 17 kétostéroides urinaires destinée aux investigations cliniques. Ann. Biol. Clin., 19: 34.Google Scholar
Bianchi, N. O. et al. (1963). Un caso de sindrome de Turner con mosaicismo de triple linea celulaer. Prensa Méd. Arg., 50: 1317.Google Scholar
Brogger, A., Strand, A. (1965). Contribution to the study of the so-called pure gonadal dysgenesis. Acta Endocr., 48: 490.Google Scholar
Brown, J. B. (1955). A chemical method for the determination of oestriol oestrone and oestradiol in human urina. Biochem. J., 60, 2: 185.CrossRefGoogle Scholar
Carr, D. H. et al. (1962). An XO-XX-XXX mosaicism in relationship to gonadal dysgenesis in females. J. Clin. Endocr. Metab., 22, 7: 671.Google Scholar
Carr, D. H., Ciampolini, L. et al. (1962). L'anorchidismo. Folia Endocr., XV, 6: 741.Google Scholar
Carr, D. H., Ciocîrdia, C. et al. (1966). L'étude de l'épreuve avec la testosterone dans des cas de deficités estrogeniques. Rev. Roum. Endocr. (In press).Google Scholar
Cohen, M. M., Shaw, M. W. (1965). Two XY siblings with gonadal dysgenesis and a female phenotype. New Engl. J. Med., 272, 21: 1084.Google Scholar
Drekter, I. J. et al. (1962). Urinary 17 es pigment free extracts and simplified procedure for estimation. J. Clin. Endocr. Metab., 12, 1: 55.Google Scholar
Elliot, G. A. et al. (1959). Gonadal dysgenesis in three sisters. J. Clinic. Endocr. Metab., 19: 993.Google Scholar
Frasier, S. D. et al. (1964). Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J. Pediat., 64: 740.Google Scholar
Hauser, G. A. (1963). Gonadal dysgenesis. Intersexuality. Ed. C. Overzier, New York, Academic Press.Google ScholarPubMed
Jacobs, P. A. et al. (1960). Abnormalities involving the X chromosome in women. Lancet, 1: 1213.CrossRefGoogle ScholarPubMed
Josso, N. et al. (1963). Le syndrome de Turner familial. Etude de deux familles avec caryotypes XO et XX. Ann. Pediat, 23: 163.Google Scholar
Milcou, S. M. et al. (1964a). Anorchidie à caryotype normal XY. Ann. Endocr., 25, 1: 76.Google ScholarPubMed
Miloou, S. M. et al. (1964 a). L'anorchidie congénitale. Rev. Roum. Embryol. Cytol. Ser. Embryol., 1, 2: 89.Google Scholar
Overzier, C., Linden, H. (1956). Echter Agonadismus. Anorchismus bei Geschwistern. Gynaecologia, Basel, 142: 233.Google Scholar
Padeh, B. et al. (1964). Klinefelter's syndrome. With emphasis on a family with Klinefelter's syndrome and Turner's syndrome in half siblings. Proc. Tel Hashomer Hosp., 3: 147.Google Scholar
Reiner, I., Grnja, S. (1955). Familiäres und männliches Vorkommen des Turner. Abright Syndroms. Aerztl. Wschr., 10: 1039.Google Scholar
Rotenbuchner, G. et al. (1964). A XO/XX/XXX mosaïcism in a case of gonadal dysgenesis. Hum. Chrom. Newslet., 14: 20.Google Scholar
Sadi, A., Metzner, B. S. (1954). Congenital bilateral absence of testicles. Urol. Int., 17: 342.CrossRefGoogle Scholar
Sohval, A. R., Soffer, L. J. (1953). Congenital familial testicular deficiency. Amer. J. Med., 14: 328.CrossRefGoogle ScholarPubMed
Stanescou, V. et al. (1966). Trois soeurs avec dysgénésie gonadique pure et caryotype XY. - VI Congr. Internat. Patol. Clin., Roma.Google Scholar
Steeno, O. et al. (1965). Deux cas d'anorchidie à caryotype normal. Rev. Roum. Endocr., 2, 4: 429.Google Scholar
Toni De, E. et al. (1964). La casistica di un anno di attività del Centro Studi cromosomici délia Clinica Pediatrica di Genova nel campo délie malformazioni sessuali. - Simp. Intern. Patol. Sesso Età Infant., Perugia.Google Scholar
Vague, I. et al. (1958). Deux cas d'anorchidie. Ann. Endocr., 2: 384.Google Scholar
Wu, M. et al. (1964). Cytogenetics studies of two patients with XXX/XX/XO and XY/XO mosaicism. - Chinese Med. J., 83: 80.Google Scholar