Skip to main content
Erschienen in: Journal für Gynäkologische Endokrinologie/Österreich 4/2017

01.11.2017 | Die Mädchensprechstunde

Die Genetik der In(Sub)fertilität

verfasst von: Dr. Allessandra Tramontana

Erschienen in: Gynäkologie in der Praxis | Ausgabe 4/2017

Einloggen, um Zugang zu erhalten

Auszug

Von Prim. Univ.-Doz. Dr. Hans-Christoph Duba, Vorstand des Instituts für medizinische Genetik, Facharzt für medizinische Genetik (Humangenetik), Kepler Universitätsklinikum, Linz …
Literatur
1.
Zurück zum Zitat Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni GM (2005) Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 20(2):437–442CrossRefPubMed Clementini E, Palka C, Iezzi I, Stuppia L, Guanciali-Franchi P, Tiboni GM (2005) Prevalence of chromosomal abnormalities in 2078 infertile couples referred for assisted reproductive techniques. Hum Reprod 20(2):437–442CrossRefPubMed
2.
Zurück zum Zitat Thoma ME, McLain AC, Louis JF, King RB, Trumble AC, Sundaram R et al (2013) Prevalence of infertility in the United States as estimated by the current duration approach and a traditional constructed approach. Fertil Steril 99(5):1324–1331.e1CrossRefPubMedPubMedCentral Thoma ME, McLain AC, Louis JF, King RB, Trumble AC, Sundaram R et al (2013) Prevalence of infertility in the United States as estimated by the current duration approach and a traditional constructed approach. Fertil Steril 99(5):1324–1331.e1CrossRefPubMedPubMedCentral
3.
Zurück zum Zitat Wolff DJ, Van Dyke DL, Powell CM (2010) Laboratory guideline for Turner syndrome. Genet Med 12(1):52–55CrossRefPubMed Wolff DJ, Van Dyke DL, Powell CM (2010) Laboratory guideline for Turner syndrome. Genet Med 12(1):52–55CrossRefPubMed
5.
Zurück zum Zitat Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B (1991) The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 48(4):682–686PubMedPubMedCentral Mathur A, Stekol L, Schatz D, MacLaren NK, Scott ML, Lippe B (1991) The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 48(4):682–686PubMedPubMedCentral
6.
Zurück zum Zitat Romero ST, Geiersbach KB, Paxton CN, Rose NC, Schisterman EF, Branch DW et al (2015) Differentiation of genetic abnormalities in early pregnancy loss. Ultrasound Obstet Gynecol 45(1):89–94CrossRefPubMed Romero ST, Geiersbach KB, Paxton CN, Rose NC, Schisterman EF, Branch DW et al (2015) Differentiation of genetic abnormalities in early pregnancy loss. Ultrasound Obstet Gynecol 45(1):89–94CrossRefPubMed
7.
Zurück zum Zitat Azmanov DN, Milachich TV, Zaharieva BM, Michailova GI, Dimitrova VG, Karagiozova ZH et al (2007) Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization. Eur J Obstet Gynecol Reprod Biol 131(2):127–131CrossRefPubMed Azmanov DN, Milachich TV, Zaharieva BM, Michailova GI, Dimitrova VG, Karagiozova ZH et al (2007) Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization. Eur J Obstet Gynecol Reprod Biol 131(2):127–131CrossRefPubMed
8.
Zurück zum Zitat Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2(2):142–155CrossRefPubMedPubMedCentral Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2(2):142–155CrossRefPubMedPubMedCentral
9.
Zurück zum Zitat Simpson JL (1975) Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations. Birth Defects Orig Artic Ser 11(4):23–59PubMed Simpson JL (1975) Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations. Birth Defects Orig Artic Ser 11(4):23–59PubMed
10.
Zurück zum Zitat Lunding SA, Aksglaede L, Anderson RA, Main KM, Juul A, Hagen CP et al (2015) AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 turner syndrome patients. J Clin Endocrinol Metab 100(7):E1030–E1038CrossRefPubMed Lunding SA, Aksglaede L, Anderson RA, Main KM, Juul A, Hagen CP et al (2015) AMH as predictor of premature ovarian insufficiency: a longitudinal study of 120 turner syndrome patients. J Clin Endocrinol Metab 100(7):E1030–E1038CrossRefPubMed
11.
Zurück zum Zitat Hadnott TN, Gould HN, Gharib AM, Bondy CA (2011) Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril 95(7):2251–2256CrossRefPubMedPubMedCentral Hadnott TN, Gould HN, Gharib AM, Bondy CA (2011) Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience. Fertil Steril 95(7):2251–2256CrossRefPubMedPubMedCentral
12.
Zurück zum Zitat Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G (1997) Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol Metab 82(6):1810–1813PubMed Pasquino AM, Passeri F, Pucarelli I, Segni M, Municchi G (1997) Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome. J Clin Endocrinol Metab 82(6):1810–1813PubMed
13.
Zurück zum Zitat Gravholt CH, Fedder J, Naeraa RW, Muller J (2000) Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 85(9):3199–3202PubMed Gravholt CH, Fedder J, Naeraa RW, Muller J (2000) Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 85(9):3199–3202PubMed
14.
Zurück zum Zitat Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA (2008) Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol 9(3):239–246CrossRefPubMed Schoemaker MJ, Swerdlow AJ, Higgins CD, Wright AF, Jacobs PA (2008) Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study. Lancet Oncol 9(3):239–246CrossRefPubMed
15.
Zurück zum Zitat Otter M, Schrander-Stumpel CT, Curfs LM (2010) Triple X syndrome: a review of the literature. Eur J Hum Genet 18(3):265–271CrossRefPubMed Otter M, Schrander-Stumpel CT, Curfs LM (2010) Triple X syndrome: a review of the literature. Eur J Hum Genet 18(3):265–271CrossRefPubMed
16.
Zurück zum Zitat Barr ML, Sergovich FR, Carr DH, Saver EL (1969) The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J 101(5):247–258PubMedPubMedCentral Barr ML, Sergovich FR, Carr DH, Saver EL (1969) The triplo-X female: an appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J 101(5):247–258PubMedPubMedCentral
18.
Zurück zum Zitat Therrell BL (2001) Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30(1):15–30CrossRefPubMed Therrell BL (2001) Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30(1):15–30CrossRefPubMed
19.
Zurück zum Zitat Therrell BL Jr., Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L et al (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 101(4 Pt 1):583–590CrossRefPubMed Therrell BL Jr., Berenbaum SA, Manter-Kapanke V, Simmank J, Korman K, Prentice L et al (1998) Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia. Pediatrics 101(4 Pt 1):583–590CrossRefPubMed
20.
Zurück zum Zitat Ferenczi A, Garami M, Kiss E, Pek M, Sasvari-Szekely M, Barta C et al (1999) Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 84(7):2369–2372PubMed Ferenczi A, Garami M, Kiss E, Pek M, Sasvari-Szekely M, Barta C et al (1999) Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 84(7):2369–2372PubMed
21.
Zurück zum Zitat Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH et al (2000) Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese. J Clin Endocrinol Metab 85(2):597–600PubMed Lee HH, Kuo JM, Chao HT, Lee YJ, Chang JG, Tsai CH et al (2000) Carrier analysis and prenatal diagnosis of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency in Chinese. J Clin Endocrinol Metab 85(2):597–600PubMed
22.
Zurück zum Zitat Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhausl W, Vierhapper H (2005) Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. J Clin Endocrinol Metab 90(2):775–778CrossRefPubMed Baumgartner-Parzer SM, Nowotny P, Heinze G, Waldhausl W, Vierhapper H (2005) Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population. J Clin Endocrinol Metab 90(2):775–778CrossRefPubMed
23.
24.
Zurück zum Zitat Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT et al (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90(2):584–595CrossRefPubMedPubMedCentral Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT et al (1992) Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 90(2):584–595CrossRefPubMedPubMedCentral
25.
Zurück zum Zitat Charmandari E, Merke DP, Negro PJ, Keil MF, Martinez PE, Haim A et al (2004) Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress. J Clin Endocrinol Metab 89(5):2228–2236CrossRefPubMed Charmandari E, Merke DP, Negro PJ, Keil MF, Martinez PE, Haim A et al (2004) Endocrinologic and psychologic evaluation of 21-hydroxylase deficiency carriers and matched normal subjects: evidence for physical and/or psychologic vulnerability to stress. J Clin Endocrinol Metab 89(5):2228–2236CrossRefPubMed
26.
Zurück zum Zitat Mulaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316(4):178–182CrossRefPubMed Mulaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316(4):178–182CrossRefPubMed
27.
Zurück zum Zitat Nordenskjold A, Holmdahl G, Frisen L, Falhammar H, Filipsson H, Thoren M et al (2008) Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. J Clin Endocrinol Metab 93(2):380–386CrossRefPubMed Nordenskjold A, Holmdahl G, Frisen L, Falhammar H, Filipsson H, Thoren M et al (2008) Type of mutation and surgical procedure affect long-term quality of life for women with congenital adrenal hyperplasia. J Clin Endocrinol Metab 93(2):380–386CrossRefPubMed
28.
Zurück zum Zitat New MI (2006) Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 91(11):4205–4214CrossRefPubMed New MI (2006) Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 91(11):4205–4214CrossRefPubMed
29.
Zurück zum Zitat Birnbaum MD, Rose LI (1979) The partial adrenocortical hydroxylase deficiency syndrome in infertile women. Fertil Steril 32(5):536–541CrossRefPubMed Birnbaum MD, Rose LI (1979) The partial adrenocortical hydroxylase deficiency syndrome in infertile women. Fertil Steril 32(5):536–541CrossRefPubMed
30.
Zurück zum Zitat Moran C, Azziz R, Weintrob N, Witchel SF, Rohmer V, Dewailly D et al (2006) Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab 91(9):3451–3456CrossRefPubMed Moran C, Azziz R, Weintrob N, Witchel SF, Rohmer V, Dewailly D et al (2006) Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia. J Clin Endocrinol Metab 91(9):3451–3456CrossRefPubMed
31.
Zurück zum Zitat Zinaman MJ, Clegg ED, Brown CC, O’Connor J, Selevan SG (1996) Estimates of human fertility and pregnancy loss. Fertil Steril 65(3):503–509CrossRefPubMed Zinaman MJ, Clegg ED, Brown CC, O’Connor J, Selevan SG (1996) Estimates of human fertility and pregnancy loss. Fertil Steril 65(3):503–509CrossRefPubMed
Metadaten
Titel
Die Genetik der In(Sub)fertilität
verfasst von
Dr. Allessandra Tramontana
Publikationsdatum
01.11.2017
Verlag
Springer Vienna
Erschienen in
Gynäkologie in der Praxis / Ausgabe 4/2017
Print ISSN: 3005-0758
Elektronische ISSN: 3005-0766
DOI
https://doi.org/10.1007/s41974-017-0015-7

Weitere Artikel der Ausgabe 4/2017

Journal für Gynäkologische Endokrinologie/Österreich 4/2017 Zur Ausgabe

Menopause heute und morgen

Die Wechseljahre ganz natürlich