ISSN: 2167-0250
+44 1300 500008
Department of Endocrinology and Metabology, University of Sao Paulo, Sao Paulo, Brazil
Dr. Renata da Cunha Scalco is a distinguished Brazilian endocrinologist affiliated with the Department of Endocrinology and Metabology at the University of São Paulo (USP). She earned her medical degree from USP in 2004, followed by residencies in Clinical Medicine (2005–2007) and Endocrinology (2008–2010) at the Hospital das Clínicas, USP. Dr. Scalco obtained her doctorate in Sciences from USP's Faculty of Medicine in 2015 and completed a postdoctoral fellowship in 2019.
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
https://academic.oup.com/ejendo/article-abstract/176/6/R339/6655154?utm_source=chatgpt.com
https://academic.oup.com/jes/article/3/Supplement_1/SUN-503/5482616?utm_source=chatgpt.com
https://observatorio.fm.usp.br/entities/person/56879ba1-07fd-46f2-b7de-551540906466?utm_source=chatgpt.com