| Full text | |
| Author(s): |
Elias, Felipe Martins
;
Nishi, Mirian Yumi
;
Palma Sircili, Maria Helena
;
Bastista, Rafael Loch
;
Gomes, Nathalia Lisboa
;
Martins Ferrari, Maria Tereza
;
Frade Costa, Elaine Maria
;
Denes, Francisco Tibor
;
Mendonca, Berenice Bilharinho
;
Domenice, Sorahia
Total Authors: 10
|
| Document type: | Journal article |
| Source: | MOLECULAR GENETICS & GENOMIC MEDICINE; v. 10, n. 12, p. 12-pg., 2022-11-11. |
| Abstract | |
Background: Differences of sex development (DSD) is a term used for conditions in which the chromosomal, gonadal or phenotypical sex is atypical. 46,XY DSD patients frequently present undervirilized external genitalia. The expression of different miRNAs in many organs of the male genital system has been reported, and these miRNAs have been associated with testicular function and its disorders, but no description has been related to DSD conditions. This study aimed to evaluate the plasma expression of miR-210 in 46,XY DSD patients who presented atypical genitalia at birth. Methods: Eighteen 46,XY DSD patients who presented atypical genitalia (undescended testis and/or hypospadias, bifid scrotum or micropenis) at birth and 36 male control individuals were selected. Plasma levels of miR-210 and reference miR-23a were measured using RT-qPCR and the data were analysed by the 2(-Delta Ct) method. Results: MiR-210 plasma levels were significantly higher in 46,XY DSD patients with atypical genitalia than in male control subjects (p = 0.0024). A positive association between miR-210 levels and the presence of cryptorchidism and hypospadias (p = 0.0146 and p = 0.0223) was found in these patients. Significantly higher levels of miR-210 were observed in patients with 46,XY DSD and cryptorchidism than in control subjects (p = 0.0118). These results are in agreement with previous literature reports, in which increased levels of miR-210 expression were observed in human testicular tissue from adult males with undescended testes in comparison with samples of descended testes. Conclusion: Our study showed a positive association between the presence of atypical genitalia and plasma levels of miR-210 expression in the group of patients with 46,XY DSD of unknown aetiology studied. These findings contribute to reveal a new perspective on the role of miRNAs in the development of male external genitalia and the broad spectrum of phenotypes presented by patients with 46,XY DSD. (AU) | |
| FAPESP's process: | 13/02162-8 - Molecular pathogenesis and characterization of monogenic developmental diseases: a route to translational medicine |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 05/04726-0 - Molecular characterization of congenital endocrine diseases that affect growth and development |
| Grantee: | Ana Claudia Latronico Xavier |
| Support Opportunities: | Research Projects - Thematic Grants |
| FAPESP's process: | 18/02895-9 - Analysis of the influence of miRNAs in the undervirilization of 46,XY patients with DSD and undetermined diagnosis |
| Grantee: | Felipe Martins Elias |
| Support Opportunities: | Scholarships in Brazil - Master |