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Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism.

Authors :
Ljubicic ML
Jørgensen A
Aksglaede L
Nielsen JE
Albrethsen J
Juul A
Johannsen TH
Source :
Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2021 Aug 10; Vol. 12, pp. 709954. Date of Electronic Publication: 2021 Aug 10 (Print Publication: 2021).
Publication Year :
2021

Abstract

Objective: Insulin-like factor 3 (INSL3) is produced in the testes and has been proposed as a circulating biomarker of Leydig cell capacity, but remains undescribed in 45,X/46,XY mosaicism. The aim was to examine serum concentrations and gonadal expression of INSL3 in 45,X/46,XY mosaicism.<br />Methods: Retrospectively collected data from medical records, gonadal tissue samples, and prospectively analyzed serum samples from eighteen male patients with 45,X/46,XY mosaicism (one prepubertal, four testosterone-treated, 13 untreated) were included. Biochemical, clinical, and histological outcomes were evaluated according to serum INSL3 concentrations, quantified by LC-MS/MS methodology, and gonadal INSL3 immunohistochemical expression.<br />Results: Serum INSL3 concentrations spanned from below to above the reference range. In untreated patients, the median serum INSL3 SD score was -0.80 (IQR: -1.65 to 0.55) and no significant difference was observed between INSL3 and testosterone. There was no clear association between serum INSL3 and External Genitalia Score at diagnosis, spontaneous puberty, or sperm concentration. INSL3 and CYP11A1 expression overlapped, except for less pronounced INSL3 expression in areas with severe Leydig cell hyperplasia. No other apparent links between INSL3 expression and histological outcomes were observed.<br />Conclusions: In this pilot study, serum INSL3 concentrations ranged and seemed independent of other reproductive hormones and clinical features in males with 45,X/46,XY mosaicism. Discordant expression of INSL3 and CYP11A1 may explain low INSL3 and normal testosterone concentrations in some patients. Further studies are needed to elucidate the divergence between serum INSL3 and testosterone and the potential clinical use of INSL3.<br />Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.<br /> (Copyright © 2021 Ljubicic, Jørgensen, Aksglaede, Nielsen, Albrethsen, Juul and Johannsen.)

Details

Language :
English
ISSN :
1664-2392
Volume :
12
Database :
MEDLINE
Journal :
Frontiers in endocrinology
Publication Type :
Academic Journal
Accession number :
34447353
Full Text :
https://doi.org/10.3389/fendo.2021.709954