Hostname: page-component-cd9895bd7-mkpzs Total loading time: 0 Render date: 2024-12-25T15:03:46.919Z Has data issue: false hasContentIssue false
  • English
  • Français

Genetics and Sterility*

Published online by Cambridge University Press:  01 August 2014

L. Gedda
L. Gedda*
Affiliation:
Istituto di Genetica Medica e Gemellologia “G. Mendel”, Roma
*
Piazza Galeno 5, 00161 Roma, Italia

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 genetic study of sterility, although rather complex, may be carried out, as far as the parents are concerned, on the basis of existing detection methods. A number of forms of individual sterility may be detected on the basis of the caryotype (ovarian and testicular dysgenesis, hermaphroditism), while a chromosomal pathologic phenotype is missing for others, and the corresponding genotypes must be detected through clinico-genealogical methods (pseudohermaphroditism, adrenogenital syndrome, Laurence-Moon-Bardet-Biedl syndrome, hereditary malformations). It is noted that the problem of immunitary incompatibility is not sufficiently clear. Examples are presented of others forms of sterility depending on a lethal load of the conceptus, for which consanguineous marriages may be held largely responsible. Cases of sterility may also be found in relation to mental diseases. The importance of eugenic counseling is stressed.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 17 , Issue 4 , October 1968 , pp. 543 - 576
Copyright
Copyright © The International Society for Twin Studies 1968

Footnotes

*

Relazione tenuta al “Primer Congreso Argentino de Esterilidad” - Rosario, 30 Ottobre 1968.

References

Bibliografia

Aslev, J., Reinwein, H. (1958). Über das familiäres Vorkommen des sogenannten Ulrich-Turner Syndroms und das Vorkandersein eines pterigium colli, eines Kryptorchismus und des Meiges Syndroms bei zwei Brüdern mit Kongenitalen vitien. Deutsch. Med. Wschr., 85: 601.Google Scholar
Bahner, F., Schwarz, G., Harnden, D. G., Jacobs, P. A., Hienz, H. A., Walter, K. (1960). A fertile female with XO sex chromosome constitution. Lancet, 2: 100.CrossRefGoogle Scholar
Bartalos, M., Baramki, T. A. (1967). Medical Cytogenetics. The Williams & Wilkins Co., Baltimore.Google Scholar
Bassöe, H. H. (1956). Familial congenital muscular dystrophy with gonadal dysgenesis. J. Clin. Endocr. Metab., 16: 1614.CrossRefGoogle ScholarPubMed
Behrman, S. J. (1965). Immunological aspects of fertility and infertility. In “Symposium on Agents Affecting Fertility”. Churchill, London.Google Scholar
Bergemann, E. (1961). Geschlechtschromatinbestimmungen am Neugeborenen. Schweiz. Med. Wschr., 91: 292.Google Scholar
Bernischke, K., Brownhill, L., Hoefnagel, D., Allen, F. H. Jr. (1962). Langdon Down anomaly (mongolism) with 21/21 translocation and Klinefelter's syndrome in the same sibship. Cytogenetics, 1: 75.Google Scholar
Biben, R. L., Gordon, G. S. (1955). Familial hypogonadotropic eunuchoidism. J. Clin. Endocr., 15: 931.Google Scholar
Bierman, J. M., Siegel, E., French, F. E., Simonian, K. (1965). Analysis of the outcome of all pregnancies in a community. Amer. J. Obstet. Gynec., 91: 37.Google Scholar
Bigozzi, V., Borghi, A., Salti, M., Giusti, G. (1966). Ipogenesia gonadica discordante in gemelle apparente-mente monozigotiche. A.Ge.Me.Ge., 15: 199.Google Scholar
Blumel, J., Kniker, M. R. (1959). Laurence-Moon-Bardet-Biedl syndrome: review of the literature and a report of five cases including a family group with three affected males. Texas Rep. Biol. Med., 17: 391.Google Scholar
Bogaert, van L. (1938). Ein Stammbaum einer Familie mit Laurence-Moon-Bardetscher Krankheit. Z. Menschl. Vererb. Konstitutionsl., 21: 314.Google Scholar
Borges, W. H., Wald, N. (1963). A diminutive satellited chromosome in a father and one of two true hermaphrodite progeny. J. Pediat., 63: 474.Google Scholar
Borjeson, M., Forssman, H., Lehmann, O. (1962). An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder. Acta Med. Scand., 171: 13.Google Scholar
Brimblecombe, S. (1946). Brit. Med. J., 526.Google Scholar
Bulloch, W. (1909). Hereditary malformation of the genital organs. In Pearson: Hermaphroditism. Treasury of Human Inheritance, 3: 947.Google Scholar
Carr, D. H. (1967). Chromosomes after oral contraceptives. Lancet, 2: 830.Google Scholar
Ceppellini, R., Landy, M. (1963). Suppression of blood group agglutinability of human erythrocytes by certain bacterial polysaccharides. J. Exp. Med., 117: 321.Google Scholar
Charny, C. W., Couston, A. S., Merauze, D. R. (1952). Testicular developmental hystology. Ann. N. Y. Acad. Sci., 55: 597.Google Scholar
Charny, C. W., Wolgin, W. (1957). Cryptorchism. Hoeber, New York.Google Scholar
Charny, C. W., Wolgin, W. (1960). Spermatogenic potential of undescended testis before and after therapy. J. Urol., 83: 697.Google Scholar
Clayton, G. W., Smith, J. D., Rosenberg, H. S. (1958). Familial true hermaphroditism in pre- and postpuberal genetic females. Hormonal and morphologic studies. J. Clin. Endocr., 18: 1349.CrossRefGoogle ScholarPubMed
Court Brown, W. M. (1962). Sex chromosomes and the law. Lancet, 2: 508.CrossRefGoogle Scholar
Dalla Volta, A., Zecca, G. (1953). Tendenze incestuose e distacco di una coppia gemellare di diverso sesso. A.Ge.Me.Ge., 2: 181.Google Scholar
Delbert, P. (1940). Academ. Med., 5.Google Scholar
Eckhardt, H. (1940). Körperliche Missbildungen. In Gütt, A.: Handbuch der Erbkrankheiten. Georg Thieme Verlag, Leipzig.Google Scholar
Federman, D. (1967). Abnormal Sexual Development. Saunders Co., Philadelphia.Google Scholar
Ferguson-Smith, M. A., Lennox, B., Mack, W. S., Stewart, J. S. S. (1957). Klinefelter's syndrome: frequency and testicular morphology in relation to nuclear sex. Lancet, 2: 167.Google Scholar
Ferguson-Smith, M. A., Lennox, B., Mack, W. S., Stewart, J. S. S. (1963). Chromosome studies in Klinefelter's syndrome. Proc. Roy. Soc. Med., 56: 577.Google Scholar
Ford, C. E., Jones, K. W., Miller, D. J., Mittwoch, U., Penrose, L. G., Ridler, M., Shapiro, A. (1959). The chromosomes in a patient showing both mongolism and the Klinefelter's syndrome. Lancet, 1: 709.Google Scholar
Frøland, A., Ulrich, K. (1963). Cit. Kaplan H. et al.Google Scholar
Gedda, L. (1963). Aspetti genetici dell'omosessualità. Sessuologia, 4: 108.Google Scholar
Gedda, L., Di Raimondo, F. (1964). The contribution of the “Clinical Twin Method” to the study of sex-anomalies in childhood. A.Ge.Me.Ge., 13: 217.Google Scholar
Gedda, L., Milani-Comparetti, M. (1965). Immunogenetical considerations in corneal transplantation. A.Ge.Me.Ge., 14: 3.Google Scholar
Gedda, L., Calabresi, F., Del Porto, G., Del Porto-Mercuri, A., Alfieri, A., Torrioli-Riggio, G., Romei, L. (1967). On a case of rare chromosomal aberration. A.Ge.Me.Ge., 16: 1.Google Scholar
Gedda, L., Calabresi, F., Del Porto, G., Del Porto-Mercuri, A., Alfieri, A., Torrioli-Riggio, G., Romei, L. (1968). Genetic perspectives in obstetrics and gynecology. J. Internat. Feder. Gynaec. Obstet., 6: 1.Google Scholar
Gedda, L., Del Porto, G. (1969). In corso di stampa.Google Scholar
Gelderen, H. H. van, Hustinx, T.W.J. (1961). Casuistische mededelingen. Nederl. T. Geneesk., 105: 1925.Google Scholar
Gershowitz, H. G., Behrman, S. J., Neel, J. V. (1958). Hemagglutinins in uterine secretions. Science, 128: 719.Google Scholar
Goeminne, L. (1968). A new probably X-linked inherited syndrome (congenital torticollis; multiple keloids, cryptorchism and renal dysplasia). A.Ge.Me.Ge., 17: 439.Google Scholar
Grouchy, J. de (1967). Le risque des produits anticonceptionnels par voi orale. Sem. Hop. Paris, 52: 3336.Google Scholar
Gullbring, B. (1957). Investigation on the occurrence of blood group antigens in spermatozoa from man, and serological demonstration of the segregation of characters. Acta Med. Scand., 159: 3.CrossRefGoogle ScholarPubMed
Hamerton, J. L., Jagiello, G. M., Kirman, B. H. (1962). Sex chromosome abnormalities in a population of mentally defective children. Brit. Med. J., 1: 220.Google Scholar
Heller, O. (1937). Med. Klin., 1: 271.Google Scholar
Hernden, D. G., Miller, O. J., Penrose, L. S. (1960). The Klinefelter-mongolism type of double aneuploidy. Ann. Hum. Genet., 24: 165.Google Scholar
Hertig, A. T., Rock, J., Adams, E. C. (1956). A description of 34 human ova within the first 17 days of development. Amer. J. Anat., 98: 435.Google Scholar
Hoefnagel, D., Bernischke, K. (1962). Twinning in Klinefelter's syndrome. Lancet, 2: 1282.Google Scholar
Holub, D. A., Grumbach, M. M., Jailer, J. W. (1958). Seminiferous tubule dysgenesis (Klinefelter's syndrome) in identical twins. J. Clin. Endocr., 18: 1359.Google Scholar
Hustinx, T. W. J., Eberle, P., Geerts, S. J., Ten Brink, J., Woltring, L. M. (1961). Mongoloid twins with 48 chromosomes. Ann. Hum. Genet., 25: 111.Google Scholar
Kagami, T. (1967). Study on sperm, semen and testis immunity and sterility. Mechanism of sterility in female animals immunized by homologous testis emulsion. J. Jap. Obstet. Gynec., 19: 479.Google Scholar
Kallmann, F. J., Schoenfeld, W. A., Barrera, S. E. (1944). The genetic aspects of primary eunuchoidism. Amer. J. Ment. Defic., 48: 203.Google Scholar
Kaplan, H., Aspillaga, M., Shelley, T. F., Gardner, L. I. (1963). Possible fertility in Klinefelter's syndrome. Lancet, 2: 506.CrossRefGoogle Scholar
Kemp, T. (1940). Erbbiologie und Erbpathologie des Geschlechtsapparates. Erbpathologie des Männlichen Geschlechtsapparates. In Bauer, K. H., Hanhart, E., Lange, J., Just, G.: Handbuch der Erbbiologie des Menschen. Springer Verlag, Berlin.Google Scholar
Kraus-Ruppert, R. (1958). Zur frage ererbter diencephaler Störungen (Infantiler Eunochoidismus so wie Mikrocephalie bei recessiven Erbgang). Z. Menschl. Vererb. Konstitutionsl., 34: 643.Google Scholar
Krieg, H. et al (1964). Immunology and sterility. Gynaek. Rundsch., 1: 243.Google Scholar
Jacobs, P. A. (1964). Chromosome studies in the general population. Symp. Internat. Soc. Cell. Biol., 3: 111.Google Scholar
Javert, C. T. (1957).Spontaneous and Habitual Abortion. McGraw-Hill, New York.Google Scholar
Inhorn, S. L., Therman, E., Patau, K. (1964). Cytogenetic studies in spontaneous human abortions. Amer. J. Clin. Path., 42: 528.Google Scholar
Josso, N. (1963). Le syndrome de Turner familial. Etude de deux familles avec caryotypes XO et XX. Ann. Pediat. (Paris), 23: 163.Google Scholar
Lamy, M. (1941). Soc. Med. Hop., 10: 703.Google Scholar
Lang, C. A. (1966). The immunological aspects of fertility. Conn. Med., 31: 690.Google Scholar
Lanman, J. T., Sklarin, B. S., Cooper, N. L., Hirschhorn, K. (1960). Klinefelter's syndrome in a ten-month-old mongolian idiot. Report of a case with chromosome analysis. New Eng. J. Med., 263: 887.Google Scholar
Lehmann, O., Forssman, H. (1960). Klinefelter's syndrome and mongolism in the same person. Acta Paediat., 49: 536.Google Scholar
Lejeune, J., Lafourcade, J., Salmon, C., Turpin, R. (1963). Translocation familiale 2~22 association à un syndrome de Turner haplo-X. Ann. Genet., 6: 3.Google Scholar
Le Marquand, H. S. (1954). Congenital hypogonadotrophic hypogonadism in five members of a family, three brothers and two sisters. Proc. Roy. Soc. Med., 47: 442.Google Scholar
Lesser, E. (1889). Beitrag zur Vererbung der Hypospadie. Virchow. Arch. Path. Anat., 64: 949.Google Scholar
Lingard, (1884). Cit. T. Kemp.Google Scholar
Lloyd, C. W. (1968). The Ovaries. In Williams, R. H.: Textbook of Endocrinology. Saunders, Philadelphia.Google Scholar
Lynch, H. T. (1960). Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases. Amer. J. Hum. Genet., 12: 440.Google Scholar
Maclean, N., Mitchell, J. M., Harnden, D. G., Williams, J., Jacobs, P. A., Buckton, K. A., Buckton, K. G., Court Brown, W. M., McBride, J. A., Strong, J. A., Close, H. G., Jones, D. C. (1962). A survey of sex chromosomes abnormalities among 4 514 mental defectives. Lancet, 1: 293.Google Scholar
Matthews, W. B., Rundle, A. T. (1964). Familial cerebellar ataxia and hypogonadism. Brain, 87: 463.CrossRefGoogle ScholarPubMed
McNeil, A. T. (1954). Uterine abnormalities in sisters with associated android features. Brit. Med. J., 8: 1078.Google Scholar
Miller, J. R. (1965). Some genetic factors in human infertility. Fertil. Steril., 16: 455.Google Scholar
Milner, W. A., Garlik, W. B., Fink, A. J., Stein, A. A. (1958). True hermaphrodite siblings. J. Urol., 79: 1003.Google Scholar
Mishell, D. R. (1938). Familial intersexuality: a report of three unusual cases. Amer. J. Obstet. Gynec., 35: 960.Google Scholar
Moghissi, K., Dabich, D., Levine, J. (1964). Mechanism of sperm migration. Fertil. Steril., 15: 15.Google Scholar
Mosier, H. D., Scott, L. W., Cotter, (1960). The frequency of positive sex chromatin pattern in males with mental deficiency. Pediatrics, 25: 291.CrossRefGoogle ScholarPubMed
Muldal, S., Ockey, C. H. (1961) Muscular dystrophy and deletion of Y chromosome. Lancet, 2: 601.Google Scholar
Neugebauer, F. v. (1902). Über Vererbung von Hypospadie und Scheinzwitterum. Mschr. Geburtsh., 15: 3.Google Scholar
Nowakowski, H., Lenz, W., Parada, J. (1959). Diskrepanz zwischen Chromatinbefund und Genetischen Geschlecht beim Klinefelter-Syndrom. Acta Endocr., 30: 296.Google Scholar
Nowakowski, H., Lenz, W., (1961). Genetic aspects in male hypogonadism. Rec. Progr. Hormone Res., 17: 53.Google Scholar
Nowakowski, H., Lenz, W., Bergman, S., Reitalu, J. (1963). Chromosome studies in identical twins with Klinefelter's syndrome. Path. Biol. (Paris), 11: 1239.Google Scholar
O'Connor, V. J., Corbus, B. C. (1922). Familial occurrence of undescended testes. Report of 6 brothers with testicular anomalies. Surg. etc., 34: 237.Google Scholar
Oettle, A. G., Rabinowitz, D., Seftel, H. C. (1960). The Laurence-Moon-syndrome with germinal aplasia of the testes. J. Clin. Endocr., 20: 683.Google Scholar
Olson, L. E. (1967). Immunologic studies in infertility. Conn. Med., 31: 690.Google Scholar
Padeh, B. (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
Popivanov, R., Vulchanov, V. (1961). On the nature and interrelationship in the species specificity of antigens (agglutinins) of human spermatozoids and erythrocytes. Izv. Mikrobiol. Inst. (Sofiia), 13: 81.Google Scholar
Prader, A. (1957). Gonadendysgenesie und testiculare Feminisierung. Schweiz. Med. Wschr., 87: 278.Google Scholar
Puck, T. T., Robinson, A., Tijo, J. H. (1960). Familial primary amenorrhea due to testicular feminization: a human gene affecting sex differentiation. Proc. Soc. Exp. Biol. Med., 103: 192.Google Scholar
Reed, S. C. (1959). Consulenza in Genetica Medica. In Gedda, L.: Analecta Genetica. Ed. Istit. Mendel, Roma.Google Scholar
Reinfrank, R. F., Nichols, F. L. (1964). Hypogonadotrophic hypogonadism in the Laurence-Moon syndrome. J. Clin. Endocr., 24: 48.Google Scholar
Restivo Manfridi, M. L., Milani Comparetti, M. (1965). Cheratoplastica e malattia da lembo: casistica e considerazioni. Atti IV Congr. Soc. Oftalm. Ital., 23.Google Scholar
Restivo Manfridi, M. L., Milani Comparetti, M. (1966). Ulteriori reperti di malattia da lembo in gravidanza. Ann. Oftalm. Clin. Oculist., 92: 12.Google Scholar
Romei, L., Ioli-Spada, G. (1959). Considerazioni su di una famiglia con retinosi pigmentaria e sindrome di Laurence-Moon-Bardet-Biedl. A.Ge.Me.Ge., 8: 487.Google Scholar
Rosenberg, H. S., Clayton, W., Hsu, T. C. (1963). Familial true hermaphroditism. J. Clin. Endocr., 23: 203.Google Scholar
Rowley, J., Muldal, S., Gilbert, C. N., Laitha, L. G., Lindsten, J., Fraccaro, M., Kaijser, K. (1963). Synthesis of desoxyribonucleic acid on X chromosome of an XXXXY male. Nature, 197: 251.Google Scholar
Rowley, P. T., Marshall, R., Ellis, J. R. (1963). A genetical and cytological study of repeated spontaneous abortion. Ann. Hum. Genet., 27: 87.Google Scholar
Rubin, A. (1967). Handbook of Congenital Malformations. W. B. Saunders Co., Philadelphia.Google Scholar
Rybczynsky, J. et al (1965). Infertility on the basis of a serological conflict between male and female. Bibl. Haemat., 23: 765.Google Scholar
Schachter, M. (1963). Maladies des Glandes Endocrines. In Gedda, L.: De Genetica Medica. Pars IV. Ed. Istit. Mendel, Roma.Google Scholar
Schmid, W. (1962). A familial chromosome abnormality associated with repeated abortions. Cytogenetics (Basel), 1: 199.Google Scholar
Serban, A. M. D., Ionescu, B., Ciovîrnache, M., Damian, A., Maximilian, C. (1966). Gonadal dysgenesis with a familial character. A.Ge.Me.Ge., 15: 386.Google Scholar
Shahani, S., Southam, A. L. (1962). Immunofluorescent study of the ABO blood group antigens in human spermatozoa. Amer. J. Obstet. Gynec., 84: 660.Google Scholar
Soerson, H. R. (1953). Hypospadias with Special Reference to Aetiology. Munskgaard, Copenhagen.Google Scholar
Sohval, A. R., Soffer, L. J. (1953). Congenital familial testicular deficiency. Amer. J. Med., 14: 328.Google Scholar
Sohval, A. R., (1954). Histopathology of cryptorchism: study based upon comparative histology of retained and scrotal testes from birth to maturity. Amer. J. Med., 16: 347.Google Scholar
Stevenson, S. S., Worcester, J., Rice, R. G. (1950). 677 congenitally malformed infants and gestational characteristics. Pediatrics, 6: 208.Google Scholar
Stiles, K. A., Goodman, H. O. (1961). Reproduction in a mongoloid. A.Ge.Me.Ge., 10: 457.Google Scholar
Strong, T. J. (1906). Vermont Med. Month., 12: 125.Google Scholar
Theobald, G. W. (1965). Reproductive ability in women. Amer. J. Obstet. Gynec., 92: 332.Google Scholar
Therman, E., Patau, K., Smith, D. W., De Mars, R. I. (1961). The D trisomy syndrome and XO gonadal dysgenesis in two sisters. Amer. J. Hum. Genet., 13: 193.Google Scholar
Thompson, J. S., Thompson, M. W. (1967). Genetics in Medicine. Saunders, Philadelphia.Google Scholar
Touraine, A. (1955). Hérédité in Médecine. Masson et C.ie Ed., Paris.Google Scholar
Turpin, R., Thoyer-Rozat, J., Lafourcade, J., Lejeune, J., Caille, B., Kessler, A. (1964). Coincidence de mongolisme et de syndrome de Klinefelter chez l'un et l'autre jumeaux d'une paire monozygote. Pédiatrie, 19: 43.Google Scholar
Turpin, R., Lejeune, J. (1965). Les Chromosomes Humains. Gauthier-Villars, Paris.Google Scholar
Van Wyk, J. J., Grumbach, M. M. (1968). Disorders of Sex Differentiation. In Williams, R. H.: Textbook of Endocrinology. Saunders, Philadelphia.Google Scholar
Volpe, R. M., Netzler, W. X., Johnston, M. W. (1963). Familial hypogonadotropic eunuchoidism with cerebellar ataxia. Clin. Endocr., 23: 107.Google Scholar
Warburg, M. (1963). A fertile patient with Klinefelter's syndrome. Acta Endocr. (Kobenhavn), 43: 12–27.Google Scholar
Warburton, D., Fraser, F. C. (1964). Spontaneous abortion risks in man: data from reproductive histories collected in a medical genetics unit. Amer. J. Hum. Genet., 16: 1.Google Scholar
Werner, M. (1940). Erbbiologie und Erbpathologie des Harnapparates. In Bauer, K. H., Hanhart, E., Lange, J., Just, G.: Handbuch der Erbbiologie des Menschen. Springer Verlag, Berlin.Google Scholar
Witschi, E., Nelson, W. O., Segal, S. J. (1957). Genetic, developmental and hormonal aspects of gonadal dysgenesis and sex inversion in man. J. Obstet. Gynaec. Brit. Comm., 58: 830.Google Scholar
Witschi, E., Laguens, R. (1963). Chromosomal aberrations in embryos from over-ripe eggs. Develop. Biol., 7: 605.Google Scholar
Woolman, (1967). Advances in Teratology. Vol. II. Logos-Academic Press.Google Scholar
Wright, S. W., Day, R. W., Mosier, H. D., Koons, H., Mueller, H. (1963). Klinefelter's syndrome, Down's syndrome (mongolism) and twinning in the same sibship. J. Pediat., 62: 217.Google Scholar
Wulfsohn, N. L. (1951). Uterus and adnexa in a male inguinal hernia. S. Afr. Med. J., 24: 317.Google Scholar
Young, D. (1951). Hernia uteri inguinales in the male. J. Obstet. Gynaec. Brit. Comm., 58: 830.Google Scholar