Andrology-Open Access
Open Access

Department of Endocrinology and Metabolism, University of Sao Paulo, Sao Paulo, Brazil

Biography

Dr. Alexander Augusto de Lima Jorge is an Associate Professor in the Department of Endocrinology and Metabolism at the University of São Paulo's Faculty of Medicine. He also serves as an endocrinologist and researcher at the Hospital das Clínicas of FMUSP. Dr. Jorge leads the Endocrinology-Genetics Unit (LIM25) and is a principal investigator at the Developmental Endocrinology Unit (LIM42). Since 1997, he has specialized in pediatric endocrinology and genetics, overseeing outpatient clinics that treat patients with growth disorders and genetic diseases.

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

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