Results 21 to 30 of about 59,164,861 (73)

Síndrome de Frasier, primer caso reportado en Perú [PDF]

, 2019
 El síndrome de Frasier es una enfermedad rara producida por la mutación del gen WT1, caracterizado por pseudohermafroditismo masculino, disgenesia gonadal 46XY y enfermedad glomerular.
Ponce Gambini, Jenny, Cok García, Jaime, Loza Munarriz, Reyner, Ynguil Muñoz, Angélica, Chia Gonzales, Sonia, Sonia Chia Gonzales, Jenny Ponce Gambini, Reyner Loza Munarriz, Angélica Ynguil Muñoz, Jaime Cok García   +9 more
core   +1 more source

Gonadal dysgenesis and morphometric histologic analysis

, 2014
Partial gonadal dysgenesis (PGD) is a sexual differentiation disorder characterized by bilateral dysgenetic testes, persistent Müllerian ducts and cryptorchidism in intersex patients with a 46,XY karyotype.
Scolfaro, Márcia R., Cardinalli, Izilda A., Guerra Júnior, Gil   +2 more
core   +1 more source

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

, 2021
Context: Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively.
Yesil, Gozde, SEVEN MENEVŞE, TUBA, Mackenzie, Matthew, Eker, Hatice Kocak, GÜRPINAR TOSUN, BUŞRA, Warr, Nick, Abali, Zehra Yavas, ÇİÇEK, DİLEK, Poyrazoglu, Sukran, Simon, Michelle, Bas, Firdevs, Teboul, Lydia, Helvacioglu, Didem, Greenfield, Andy, BEREKET, ABDULLAH, DEMİRCİOĞLU, SERAP, KAYGUSUZ, SARE BETÜL, ELTAN, MEHMET, HATİPOĞLU, NİHAL, GÜRAN, TÜLAY, Reeves, Richard, DİREK, GÜL, Darendeliler, Feyza, Menevse, Tuba Seven, YEŞİL SAYIN, Gözde, Tosun, Busra Gurpinar, Turan, Serap, Lydia Teboul, Didem Helvacioglu, Tulay Guran, Nihal Hatipoglu, Busra Gurpinar Tosun, Feyza Darendeliler, Matthew Mackenzie, Hatice Kocak Eker, Abdullah Bereket, Dilek Cicek, Gul Direk, Richard Reeves, Tuba Seven Menevse, Sukran Poyrazoglu, Sare Betul Kaygusuz, Mehmet Eltan, Gozde Yesil, Nick Warr, Zehra Yavas Abali, Firdevs Bas, Michelle Simon, Andy Greenfield, Serap Turan   +49 more
core   +2 more sources

46,XX SRY-Negative True Hermaphrodite Siblings

, 2009
The sex-determining region on the Y chromosome (SRY) gene guides male sexual development. However, individuals with sex reversal syndrome (46,XX males and 46,XX true hermaphrodites) lack the SRY gene and yet can still develop testes.
Roth, David R., Hsieh, Michael H., Dorsey, Faith Y., Faith Y. Dorsey, David R. Roth, Michael H. Hsieh   +5 more
core   +1 more source

46,XX/SRY-negative true hermaphrodite [PDF]

, 2010
Objective: To describe genetic evaluation and response to surgery and letrozole therapy of a 46,XX/SRY-negative true hermaphrodite. Design: Case report. Setting: University Medical Center.
Ríos, Rafael, Parada-Bustamante, Alexis, Castro, Andrea, Lardone, María Cecilia, Piottante, Antonio, Ebensperger, Mauricio, Rafael Ríos, María Cecilia Lardone, Antonio Piottante, Alexis Parada-Bustamante, Andrea Castro, Mauricio Ebensperger   +11 more
core   +1 more source

EMBARAZO EXITOSO EN PACIENTE CON DISGENESIA GONADAL PURA

, 2010
<h3>Resumen</h3><p><em>Objetivo</em>: Reporte de un caso de embarazo exitoso en una paciente con disgenesia gonadal pura.<br /><em>Diseño de estudio:</em> Informe de caso.<br /><em>Lugar</em ...
Ricardo Rueda G., Johana Marroquín C., Claudia Ortiz A., Ricardo Rueda S.   +3 more
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Mutation analysis of genes involved in differentiation and maintenance of germ cells in patients with 46,XX disorders of gonadal development

, 2010
Diversos genes expressos durante a diferenciação das células germinativas atuam no desenvolvimento ovariano. A diferenciação das células somáticas ovarianas depende do número de células germinativas pré-meióticas que migram para a fenda gonadal.
Mariza Augusta Gerdulo dos Santos, Santos, Mariza Augusta Gerdulo dos   +1 more
core   +1 more source

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads [PDF]

, 2006
Purpose: The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients. Experimental Design: Sixty paraffin-embedded gonadectomy or gonadal biopsy samples of 43 patients with ...
Kula, Krzysztof, Looijenga, L. H. J., Wolffenbuttel, K. P., Cools, Martine, Slowikowska-Hilczer, J., Slowikowska-Hilczer, Jolanta, Cools, M., Bourguignon, Jean-Pierre, Stoop, Hans, Drop, S. L. S., Oosterhuis, J. W., Kersemaekers, A. M. F., Faradz, S. M. H., Wolffenbuttel, Katja P, Stoop, H., Kula, K., Bourguignon, JP, Looijenga, LHJ, Slowikowska-Hilczer, J. (Jolanta), Slowikowska-Hilzcer, J, Kersemaekers, AMF, Stoop, H, Looijenga, L.H.J. (Leendert), Cools, M.B.C.M. (Martine), Cools, MBC, Drop, SLS, Faradz, SMH, Kula, K. (Krzysztof), Wolffenbuttel, K.P. (Katja), Oosterhuis, Wolter, Slowikowska-Hilczer, J, Drop, S.L.S. (Stenvert), Faradz, S, Kula, K, Stoop, J.A. (Hans), Wolffenbuttel, Katja, Kersemaekers, AM, Looijenga, LHJ (Leendert), Kersemaekers, A.M. (Anne-Marie), Wolffenbuttel, KP, Oosterhuis, J.W. (Wolter), Faradz, S.M.H. (Sultana), Oosterhuis, JW, Bourguignon, J.-P. (J.), Drop, Sten, Looijenga, Leendert H. J, Oosterhuis, J. Wolter, Faradz, Sultana M.H., Drop, Stenvert L. S, Kersemaekers, Anne-Marie F.   +49 more
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Disgenesia gonadal: Reporte de un caso

, 1965
A woman 17 years old with primary amenorrhea and shortness stature is presented, the parient had adequate development of the breast and pubic hair, however the chromatin sex was of the mole type and the uterus was absent; urinary gonadotrophins were high.
Rocca G., Ennio
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Identification of novel variants and candidate genes in women with 46,XX complete gonadal dysgenesis

Background 46,XX complete gonadal dysgenesis (46,XX-CGD) is a rare disorder of sexual development (DSD) characterized by primary amenorrhea and a lack of spontaneous pubertal development in individuals with a 46,XX karyotype despite the presence of ...
Qinjie Tian, Shan Deng, Leilei Ding, Duoduo Zhang, Pan Zhang   +4 more
core   +1 more source