Browsing by Author "900fc527-0514-4c99-94b7-c6ed1804918c"

Now showing items 1-9 of 9

    • 46,XX/SRY-negative true hermaphrodite 
      Parada-Bustamante, Alexis; Ríos, Rafael; Ebensperger, Mauricio; Lardone, María Cecilia; Piottante, Antonio; Castro, Andrea (Elsevier Inc., 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. Patient(s): Nineteen-year-old ...
    • A polygenic risk score suggests shared genetic architecture of voice break with early markers of pubertal ... 
      Lardone, María Cecilia; Busch, Alexander; Santos, José; Miranda, Patricio; Eyheramendy, Susana; Pereira Scalabrino, Ana; Juul, Anders; Almstrup, Kristian; Mericq, Verónica (Endocrine Society, 2020)
      Context: Voice break, as a landmark of advanced male puberty in genome-wide association studies (GWAS), has revealed that pubertal timing is a highly polygenic trait. Although voice break is easily recorded in large cohorts, ...
    • Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias 
      Parada Bustamante, Alexis; Lardone, María Cecilia; Madariaga, Marcia; Johnson, María Cecilia; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando; Castro, Andrea (2012)
      Background: The etiology of hypospadias is multifactorial. Abnormal androgenic secretion and/or action during the development of external genitalia may be involved in the etiology of this congenital malformation. This study ...
    • Androgen receptor gene cag repeat polymorphism in girls with high DHEAS: association with pubertal events ... 
      Lardone, María Cecilia; Castro, Andrea; Ortiz, Eliana; Pereira Scalabrino, Ana; Corvalán Aguilar, Camila; Mericq, Verónica (Karger, 2017)
    • Oestrogen activity of the serum in adolescents with Type 1 diabetes 
      Martínez, D.; Castro, A.; Merino Osorio, Paulina; López, P.; Lardone, María Cecilia; Iñíguez Vila, Germán; Cassorla Goluboff, Fernando; Codner Dujovne, Ethel (2016)
      AimsTo assess serum oestrogen levels and oestrogenic activity in adolescents with Type 1 diabetes compared with a healthy control group. MethodsWe conducted a cross-sectional study that evaluated adolescents with Type ...
    • Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome ... 
      Lardone, María Cecilia; Ortega, Victoria; Ortiz, Eliana; Flórez, M.; Piottante, Antonio; Ebensperger, Mauricio; Flores, Sandra; Pezo, Patricio; Orellana, Michael; Moraga, Mauricio; Castro, Andrea (Springer, 2020)
      Purpose To investigate the association of partial-AZFc deletions in Chilean men with primary spermatogenic failure and their testicular histopathological phenotypes, analyzing the contribution ofDAZdosage,CDY1copies, and ...
    • Role of the Androgen Receptor Gene CAG Repeat Polymorphism on the Sequence of Pubertal Events and Adiposity ... 
      Lardone, María Cecilia; Castro, Andrea; Pereira, Ana; Corvalán Aguilar, Camila; Ortíz, Eliana; Mericq, Verónica (Elsevier USA, 2019)
      Study Objective: The androgen receptor (AR) harbors a variable repeat number of glutamine residues codified by (CAG)n, which seems to inversely affect AR transcriptional activity. We assessed whether (CAG)n affects the ...
    • Supplementary Figure 1. GWAS 
      Lardone, María Cecilia (2019)
    • Testicular steroid sulfatase overexpression is associated with Leydig cell dysfunction in primary spermatogenic ... 
      Lardone, María Cecilia; Reyes, Ian N.; Ortiz, Eliana; Piottante, Antonio; Palma, Cristian; Ebensperger González, Mauricio; Castro Gálvez, María Andrea (Wiley, 2021)
      Background Decreased testosterone (T) to LH ratio and increased 17 beta-estradiol (E2) serum concentrations represent a common finding among patients with severe spermatogenic failure, suggesting a concurrent Leydig cell ...