A Search for Disorders of Sex Development among Infertile Men

Author(s)

Yabiku, Rafael S. ^[1] ; Guaragna, Mara S. ^[2] ; de Sousa, Lizandra M. ^[2] ; Fabbri-Scallet, Helena ^[2] ; Mazzola, Tais N. ^{[2, 3]} ; Piveta, Cristiane S. C. ^[2] ; de Souza, Marcela L. ^[2] ; Guerra-Junior, Gil ^{[1, 3, 4]} ; de Mello, Maricilda P. ^[2] ; Maciel-Guerra, Andrea T. ^{[1, 5]}

Affiliation

^[1] State Univ Campinas UNICAMP, Interdisciplinary Grp Study Sex Determinat & Diff, Campinas, SP - Brazil

^[2] State Univ Campinas UNICAMP, Lab Human Mol Genet, Ctr Mol Biol & Genet Engn CBMEG, Campinas, SP - Brazil

^[3] State Univ Campinas UNICAMP, Ctr Invest Pediat CIPED, Growth & Dev Lab, Campinas, SP - Brazil

^[4] State Univ Campinas UNICAMP, Dept Pediat, Campinas, SP - Brazil

^[5] State Univ Campinas UNICAMP, Sch Med FCM, Dept Med Genet, Campinas, SP - Brazil

• Document type: Journal article
• Source: SEXUAL DEVELOPMENT; v. 12, n. 6, p. 275-280, 2018.
• Web of Science Citations: 0

Abstract

A retrospective cross-sectional study was performed in a DSD clinic at a tertiary service (University Hospital) to estimate the frequency of disorders of sex development (DSD) among men who seek medical care because of infertility. The sample included 84 men >20 years of age referred from 2010-2017 due to oligozoospermia or nonobstructive azoospernnia of unknown etiology, Twelve cases (14%) were diagnosed as DSD, including Klinefelter Syndrome, 46,XX testicular DSD, and mild androgen insensitivity syndrome. Y chromosome microdeletions were detected in 2 patients. Among the remaining 70 cases there were patients with chromosome abnormalities which are not included in the DSD classification as well as rare NR5A1 variants of uncertain significance and hypergonadotropic hypogonadism and microorchidism in 46,XY subjects. In conclusion, the frequency of DSD in this study was 14%, consisting mainly of sex chromosome abnormalities but also 46,XX and 46,XY DSD. However, this figure may increase as further investigations are conducted in idiopathic cases with signs of primary testicular failure, which may present partial gonadal dysgenesis. (C) 2018 S Karger AG, Basel (AU)

• FAPESP's process: 09/08320-9 - Serching for mutations on ar and SRD5A2 genes in 46,XY newborn and pre-pubarche patients with genital ambiguity
• Grantee: Maricilda Palandi de Mello
• Support Opportunities: Regular Research Grants