Response to Letter to the Editor from Lao and Merke: “Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia” von Marino, Roxana, Perez Garrido, Natalia, Ramirez, Pablo, Belgorosky, Alicia

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Ehlers–Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia von Marino, Roxana, Garrido, Natalia Perez, Ramirez, Pablo, Notaristéfano, Guillermo, Moresco, Angélica, Touzon, Maria Sol, Vaiani, Elisa, Finkielstain, Gabriela, Obregón, María Gabriela, Balbi, Viviana, Soria, Ianina, Belgorosky, Alicia

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Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders von Vishnopolska, Sebastian Alexis, Mercogliano, Maria Florencia, Camilletti, Maria Andrea, Mortensen, Amanda Helen, Braslavsky, Debora, Keselman, Ana, Bergadá, Ignacio, Olivieri, Federico, Miranda, Lucas, Marino, Roxana, Ramírez, Pablo, Pérez Garrido, Natalia, Patiño Mejia, Helen, Ciaccio, Marta, Di Palma, Maria Isabel, Belgorosky, Alicia, Martí, Marcelo Adrian, Kitzman, Jacob Otto, Camper, Sally Ann, Pérez-Millán, Maria Ines

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Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect von Marino, Roxana, Perez Garrido, Natalia, Costanzo, Mariana, Guercio, Gabriela, Juanes, Matías, Rocco, Carlos, Ramirez, Pablo, Warman, Diana M, Ciaccio, Marta, Pena, Gladys, Feyling, José García, Miras, Mirta, Rivarola, Marco A, Belgorosky, Alicia, Saraco, Nora

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Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort von Touzon, Maria Sol, Garrido, Natalia Perez, Marino, Roxana, Ramirez, Pablo, Costanzo, Mariana, Guercio, Gabriela, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia

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Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene von Eozenou, Caroline, Gonen, Nitzan, Touzon, Maria Sol, Jorgensen, Anne, Yatsenko, Svetlana A., Fusee, Leila, Kamel, Alaa K., Gellen, Balazs, Guercio, Gabriela, Singh, Priti, Witchel, Selma, Berman, Andrea J., Mainpal, Rana, Totonchi, Mehdi, Meybodi, Anahita Mohseni, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Garrido, Natalia Perez, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu

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Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome von Marino, Roxana, Moresco, Angélica, Perez Garrido, Natalia, Ramirez, Pablo, Belgorosky, Alicia

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A Surgical and Clinical Approach to Persistent Müllerian Duct Syndrome: Laparoscopic, Histological, and Molecular Findings von Mattone, María Celeste, Lobo de la Vega, María Victoria, Redondo, Emiro J., D’Alessandro, Pablo, Perez Garrido, Natalia, Galluzzo, María Laura, Costanzo, Mariana, Zaidman, Verónica, Lazzati, Juan Manuel, Berensztein, Esperanza, Ramirez, Pablo, Marino, Roxana, Belgorosky, Alicia, Ciaccio, Marta, Bailez, Marcela, Guercio, Gabriela

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GROWTH HORMONE RECEPTOR GENE POLYMORPHISM. SPONTANEOUS CATCH UP GROWTH IN SMALL FOR GESTATIONAL AGE PATIENTS von Perez Garrido, Natalia, Pujana, Matias, Berger, Malena, Ramirez, Pablo, Guercio, Gabriela, Belgorosky, Alicia, Marino, Roxana

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MOLECULAR ANALYSIS OF THE CYP21A2 GENE IN DRIED BLOOD SPOT SAMPLES von Marino, Silvia, Perez Garrido, Natalia, Ramirez, Pablo, Pujana, Matias, Dratler, Gustavo, Belgorosky, Alicia, Marino, Roxana

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Accelerated Pubertal Tempo in a 46,XY Aromatase-Deficient Patient von Costanzo, Mariana, Garcia-Feyling, José, Saraco, Nora, Marino, Roxana, Pérez Garrido, Natalia, Touzon, Maria Sol, Viterbo, Gisela, Lazzati, Juan Manuel, Patiño, Hellem Carolina, Mattone, Celeste, Maceiras, Mercedes, Belgorosky, Alicia, Guercio, Gabriela

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An Intron 9 CYP19 Gene Variant (IVS9+5G>A), Present in an Aromatase-Deficient Girl, Affects Normal Splicing and Is Also Present in Normal Human Steroidogenic Tissues von Saraco, Nora, Nesi-Franca, Suzana, Sainz, Romina, Marino, Roxana, Marques-Pereira, Rosana, La Pastina, Julia, Perez Garrido, Natalia, Sandrini, Romolo, Rivarola, Marco Aurelio, de Lacerda, Luiz, Belgorosky, Alicia

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Androgen Insensitivity Syndrome at Prepuberty: Marked Loss of Spermatogonial Cells at Early Childhood and Presence of Gonocytes up to Puberty von Aliberti, Paula, Perez Garrido, Natalia, Marino, Roxana, Ramirez, Pablo, Solari, Alberto J., Sciurano, Roberta, Costanzo, Mariana, Guercio, Gabriela, Warman, Diana Mónica, Bailez, Marcela, Baquedano, María Sonia, Rivarola, Marco A, Belgorosky, Alicia, Berensztein, Esperanza

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Treatment with TRIAC in pediatric patients with MCT8 von Gazek, Natalia, Feller, Ana L, Vaiani, Elisa, Di Palma, Isabel, Savransky, Andrea, Ramírez, Pablo, Marino, Roxana, Pérez Garrido, Natalia, Lazzati, Juan M, Herzovich, Viviana, Dujovne, Noelia

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GROWTH HORMONE RECEPTOR GENE POLYMORPHISM. SPONTANEOUS CATCH UP GROWTH IN SMALL FOR GESTATIONAL AGE PATIENTS von Perez Garrido, Natalia, Pujana, Matias, Berger, Malena, Ramirez, Pablo, Guercio, Gabriela, Belgorosky, Alicia, Marino, Roxana

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12279 Molecular Strategy And Genetic Characterization Of A Large Cohort Of Pediatric Patients With Hereditary Hypophosphatemic Rickets: Advantages Of Next Generation Sequencing von Garrido, Natalia Perez, Ramirez, Pablo, Viterbo, Gisela Lorena, del Pino, Mariana, Abbate, Silvina, Saraco, Nora Isabel, Tesan, Fiorella, Ciaccio, Marta, Fano, Virginia, Belgorosky, Alicia, Marino, Roxana

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THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth von Zoff, Luciana, Garcia, Francisco, Aschettino, Giovanna, Veneruzzo, Gabriel, Mattone, María Celeste, Garrido, Natalia Perez, Juanes, Matías, Saraco, Nora Isabel, Alonso, Cristina, Alonso, Cristina, Guercio, Gabriela, Belgorosky, Alicia, Baquedano, Maria Sonia

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Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia von Marino, Roxana, Ramirez, Pablo, Galeano, Jesica, Perez Garrido, Natalia, Rocco, Carlos, Ciaccio, Marta, Warman, Diana M., Guercio, Gabriela, Chaler, Eduardo, Maceiras, Mercedes, Bergadá, Ignacio, Gryngarten, Mirta, Balbi, Viviana, Pardes, Esther, Rivarola, Marco A., Belgorosky, Alicia

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DNA methylation is not involved in specific down-regulation of HSD3B2, NR4A1 and RARB genes in androgen-secreting cells of human adrenal cortex von Baquedano, María Sonia, Perez Garrido, Natalia, Goñi, Javier, Saraco, Nora, Aliberti, Paula, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia

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A Novel Missense Mutation in the HSD3B2 Gene, Underlying Nonsalt-Wasting Congenital Adrenal Hyperplasia. New Insight Into the Structure-Function Relationships of 3β-Hydroxysteroid... von Baquedano, María Sonia, Ciaccio, Marta, Marino, Roxana, Perez Garrido, Natalia, Ramirez, Pablo, Maceiras, Mercedes, Turjanski, Adrian, Defelipe, Lucas A, Rivarola, Marco A, Belgorosky, Alicia

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