Andrology-Open Access
Open Access

Department of Medicine, Federal University of Bahia, Salvador, Brazil

Biography

Dr. José Antônio Diniz Faria Júnior is a distinguished Brazilian physician and academic specializing in pediatrics and pediatric endocrinology. He completed his medical degree at the Faculty of Medicine of Bahia, Federal University of Bahia (FAMEB/UFBA) between 2006 and 2011. Following his graduation, he pursued a residency in Pediatrics and Pediatric Endocrinology at the Instituto da Criança, Hospital das Clínicas, University of São Paulo (IC-HCFMUSP) from 2012 to 2015. He further enhanced his expertise with a specialized fellowship in Pediatric Endocrinology at the same institution between 2015 and 2016.

Publications

• Research Article   
  Prevalence and Patterns of Y Chromosome Microdeletions in Patients with Differences of Sex Development and 45,X Mosaicism
  Author(s): Laura da Silva Salvanini, Elinaelma Suelane do Nascimento Silva, Jose Antonio Diniz Faria Junior, Renata Scalco, Alexander Augusto de Lima Jorge, Mirian Yumie Nishi, Berenice Bilharinho de Mendonca and Sorahia Domenice*
  
  Background: Sex development in mammals is regulated by a complex interplay of genetic and epigenetic mechanisms. Deviations in this process can lead to Differences of Sex Development (DSD), including sex chromosome DSD conditions such as 45,X/46,XY mosaicism. Y chromosome microdeletions, particularly in the Azoospermia Factor (AZF) region, have been associated with this condition due to their potential to cause Y chromosome instability, leading to the formation of 45,X cell lineages. This study investigated the frequency and patterns of Yq microdeletions in subjects with sex chromosome DSD and 45,X mosaicism. Methods: We analyzed 28 patients with sex chromosome DSD, all of whom had a 45,X cell lineage identified in their karyotype. Yq microdeletions were assessed using conventional and multiplex PCR, targeting 32 Sequence-Tagged Sites (STS)... View More»
  DOI: 10.35248/2167-0250.24.13.331

  Abstract HTML PDF

Other relevant publications from this author

• https://www.scielosp.org/article/rsp/2024.v58/27/

  https://www.mdpi.com/2075-4418/13/13/2235

  https://academic.oup.com/jcem/article/104/4/1160/5150475

  https://doaj.org/article/3889e3b9d7dd4efb8c6591e58f520488

  https://academic.oup.com/jes/article/4/Supplement_1/OR27-01/5832131