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Erschienen in: Journal für Gynäkologische Endokrinologie/Schweiz 4/2017

01.12.2017 | Die Mädchensprechstunde

Die Genetik der In(Sub)fertilität

verfasst von: Dr. Allessandra Tramontana

Erschienen in: Journal für Gynäkologische Endokrinologie/Schweiz | Ausgabe 4/2017

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Von Prim. Univ.-Doz. Dr. Hans-Christoph Duba, Vorstand des Instituts für medizinische Genetik, Facharzt für medizinische Genetik (Humangenetik), Kepler Universitätsklinikum, Linz …
Vorheriger Artikel Positionspapier der Nordamerikanischen Menopause Gesellschaft (NAMS) zur HRT
Nächster Artikel Die Wechseljahre ganz natürlich
Literatur
1.
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):437–442 CrossRefPubMed
2.
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.e1 CrossRefPubMedPubMedCentral
3.
Wolff DJ, Van Dyke DL, Powell CM (2010) Laboratory guideline for Turner syndrome. Genet Med 12(1):52–55 CrossRefPubMed
4.
5.
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):682–686 PubMedPubMedCentral
6.
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):89–94 CrossRefPubMed
7.
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):127–131 CrossRefPubMed
8.
Ferguson-Smith MA (1965) Karyotype-phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations. J Med Genet 2(2):142–155 CrossRefPubMedPubMedCentral
9.
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):23–59 PubMed
10.
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–E1038 CrossRefPubMed
11.
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):2251–2256 CrossRefPubMedPubMedCentral
12.
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):1810–1813 PubMed
13.
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):3199–3202 PubMed
14.
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):239–246 CrossRefPubMed
15.
Otter M, Schrander-Stumpel CT, Curfs LM (2010) Triple X syndrome: a review of the literature. Eur J Hum Genet 18(3):265–271 CrossRefPubMed
16.
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):247–258 PubMedPubMedCentral
17.
18.
Therrell BL (2001) Newborn screening for congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30(1):15–30 CrossRefPubMed
19.
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):583–590 CrossRefPubMed
20.
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):2369–2372 PubMed
21.
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):597–600 PubMed
22.
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):775–778 CrossRefPubMed
23.
24.
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):584–595 CrossRefPubMedPubMedCentral
25.
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):2228–2236 CrossRefPubMed
26.
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):178–182 CrossRefPubMed
27.
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):380–386 CrossRefPubMed
28.
New MI (2006) Extensive clinical experience: nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 91(11):4205–4214 CrossRefPubMed
29.
Birnbaum MD, Rose LI (1979) The partial adrenocortical hydroxylase deficiency syndrome in infertile women. Fertil Steril 32(5):536–541 CrossRefPubMed
30.
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):3451–3456 CrossRefPubMed
31.
Zinaman MJ, Clegg ED, Brown CC, O’Connor J, Selevan SG (1996) Estimates of human fertility and pregnancy loss. Fertil Steril 65(3):503–509 CrossRefPubMed
Metadaten
Titel
Die Genetik der In(Sub)fertilität
verfasst von
Dr. Allessandra Tramontana
Publikationsdatum
01.12.2017
Verlag
Springer Vienna
Erschienen in
Journal für Gynäkologische Endokrinologie/Schweiz / Ausgabe 4/2017
Print ISSN: 1995-6924
Elektronische ISSN: 2520-8500
DOI
https://doi.org/10.1007/s41975-017-0019-8

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