Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Pure Gonadal Dysgenesis"'
Autor:
Xinyue Zhang, Ying Zhang, Jinhui Wang, Jie Yang, Shuangni Yu, Min Yin, Sijian Li, Jiaxin Yang
Publikováno v:
Current Oncology, Vol 29, Iss 12, Pp 9753-9759 (2022)
A female phenotype with strip-like gonads, 46, XY pure gonadal dysgenesis (PGD) has a high tendency to develop into gonadal germ cell tumors. We described one patient with 46, XY PGD, who had a gonadal mixed germ cell tumor (GCT) and acute lymphoblas
Externí odkaz:
https://doaj.org/article/925390d1785e4627be45d1825488455d
Autor:
Malgorzata A. Krawczyk, Malgorzata Styczewska, Dorota Birkholz-Walerzak, Mariola Iliszko, Beata S. Lipska-Zietkiewicz, Wojciech Kosiak, Ninela Irga-Jaworska, Ewa Izycka-Swieszewska, Ewa Bien
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 251-257 (2022)
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disease, affecting mainly patients of Slavic origin. It is caused by a defect in the NBN gene, resulting in defective nibrin protein formation. This leads to chromosomal instability, whic
Externí odkaz:
https://doaj.org/article/768d23c880124f69be5d610e756c9796
Autor:
Joon Cheol Park
Publikováno v:
Fertility & Reproduction, Vol 04, Iss 01, Pp 32-35 (2022)
46, XY pure gonadal dysgenesis (Swyer syndrome) is usually presented as sexual infantilism with delayed puberty and primary amenorrhea. Rarely, patients can present with spontaneous breast development and/or menstruation. A 32-year-old woman complain
Externí odkaz:
https://doaj.org/article/b40b83b46715433192c5a16774deb108
Autor:
Tahereh Ashraf Ganjooei, Zanbagh Pirastehfar, Asieh Mosallanejad, Masoomeh Raoufi, Noushin Afshar Moghaddam, Mozhgan Hashemieh
Publikováno v:
Clinical Case Reports, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Swyer syndrome is a 46, XY karyotype, with pure gonadal dysgenesis and primary amenorrhea. These females have primordial Mullerian structures and seek medical attention as they experience primary amenorrhea. Here, we report a 15‐year‐old
Externí odkaz:
https://doaj.org/article/19deb52ec67f4433b7c3d3b00728cbf7
Publikováno v:
信州医学雑誌. 69(3):135-140
Article
信州医学雑誌 69(3) : 135-140(2021)
信州医学雑誌 69(3) : 135-140(2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=jairo_______::058496bc9aee99f37c6ca8a3e9d7d40a
https://soar-ir.repo.nii.ac.jp/records/2000253
https://soar-ir.repo.nii.ac.jp/records/2000253
Publikováno v:
International Journal of Advanced Research. 9:641-644
XX or XY pure gonadal dysgenesis (PGD) is defined by premature destruction of the fetal gonads which reduce to an undifferentiated stroma with absence of germ line and endocrine secretion. The phenotype is unambiguously female with a clinical picture
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5237034e30f450bc6e73a7d6bef9c84d
https://doi.org/10.21474/ijar01/12743
https://doi.org/10.21474/ijar01/12743
Publikováno v:
Medicina, Vol 32, Iss 4, Pp 337-340 (2010)
ResumenObjetivo: Reporte de un caso de embarazo exitoso en una paciente con disgenesia gonadal pura.Diseño de estudio: Informe de caso.Lugar: Centro de Fertilidad y Reproducción Fundación Santa Fe de Bogotá (REPROTEC).Paciente: Una paciente con d
Externí odkaz:
https://doaj.org/article/01db7287b45449d1a988beea5d6f2d39
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 9, Iss 3, Pp OD01-OD02 (2015)
Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder. Over the years many additional features like marfan
Externí odkaz:
https://doaj.org/article/3bd63bc8aa67449f9b13a42440d37859
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.