A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings

Autor: María Celeste Mattone, María Victoria Lobo de la Vega, Emiro J. Redondo, Pablo D’Alessandro, Natalia Perez Garrido, María Laura Galluzzo, Mariana Costanzo, Verónica Zaidman, Juan Manuel Lazzati, Esperanza Berensztein, Pablo Ramirez, Roxana Marino, Alicia Belgorosky, Marta Ciaccio, Marcela Bailez, Gabriela Guercio

Publikováno v: Sexual Development. :1-7

Background: Persistent müllerian duct syndrome (PMDS) is characterized by the persistence of müllerian duct derivatives in otherwise normally virilized 46,XY males. Biallelic mutations of the anti-müllerian hormone (AMH) and AMH receptor type 2 (A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::45fd128f16081a2b7025a7a69adf4b18
https://doi.org/10.1159/000526992

Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty

Autor: Gabriela Guercio, Nora Saraco, Mariana Costanzo, Roxana Marino, Pablo Ramirez, Esperanza Berensztein, Marco A. Rivarola, Alicia Belgorosky

Publikováno v: Frontiers in Endocrinology, Vol 11 (2020)

Several reports in humans as well as transgenic mouse models have shown that estrogens play an important role in male reproduction and fertility. Estrogen receptor alpha (ERα) and beta (ERβ) are expressed in different male tissues including the bra

Externí odkaz: https://doaj.org/article/e33a22b8ae8d48318e95a41a69c43a3f

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 ( WT1 ) gene

Autor: Masomeh Askari, Svetlana A. Yatsenko, Robin Lovell-Badge, Tiphanie Merel-Chali, Balázs Gellén, Nitzan Gonen, Leila Fusee, Rana Mainpal, Mariana Costanzo, Inas Mazen, Anu Bashamboo, Anahita Mohseni Meybodi, Esperanza Berensztein, Joelle Bignon-Topalovic, Caroline Eozenou, Natalia Perez Garrido, Alicia Belgorosky, Andrea J. Berman, Roberta Migale, Ken McElreavey, Rita Bertalan, Alaa K. Kamel, Mona K. Mekkawy, Maria Sol Touzon, Priti Singh, Pablo Ramirez, Gabriela Guercio, Aleksandar Rajkovic, Mehdi Totonchi, Selma F. Witchel, Roxana Marino, John C. Schimenti, Anne Jørgensen

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩
Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (24), pp.13680-13688. ⟨10.1073/pnas.1921676117⟩

International audience; Sex determination in mammals is governed by antagonistic interactions of two genetic pathways, imbalance in which may lead to disorders/differences of sex development (DSD) in human. Among 46,XX individuals with testicular DSD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f28b185a9a5aeb46bd22dbfa6cc25dd
https://doi.org/10.1073/pnas.1921676117

DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex

Autor: M A Rivarola, Natalia Perez Garrido, N. Saraco, Alicia Belgorosky, María Sonia Baquedano, Esperanza Berensztein, Paula Aliberti, Javier Goñi

Publikováno v: Molecular and Cellular Endocrinology. 441:46-54

We hypothesized that DNA methylation is involved in human adrenal functional zonation. mRNAsexpression and methylation pattern of RARB, NR4A1 and HSD3B2 genes in human adrenal tissues (HAT)and in pediatric virilizing adrenocortical tumors (VAT) were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02ffd10e158f1f81dcbeeea8d2348f53
https://doi.org/10.1016/j.mce.2016.09.024

SUN-212 Differences of Sex Development Patients: Characterization of Histological Findings and Immunohistochemistry Markers in 46,Xx Gonads During Early Childhood

Autor: Marta Ciaccio, Alicia Belgorosky, Gabriela Guercio, Roxana Marino, Marcela Bailez, Maria Sol Touzon, Natalia Perez Garrido, Esperanza Berensztein, Maria Laura Galluzzo Mutti, Pablo Ramírez, Elisa Vaiani, Mariana Costanzo

Publikováno v: Journal of the Endocrine Society

Differences of sex development (DSDs) comprise a group of congenital conditions, affecting human sex determination and/or differentiation. Patients with DSD are classified in: sex chromosome DSD, 46,XY DSD and 46,XX DSD. Gonadal germ cell tumors(GCC)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4446a2ac9b536ba3849357551b0b5edd
https://doi.org/10.1210/js.2019-sun-212