| Full text | |
| Author(s): |
Batista, Rafael Loch
;
Craveiro, Flora Ladeira
;
Ramos, Raquel Martinez
;
Mendonca, Berenice Bilharinho
Total Authors: 4
|
| Document type: | Journal article |
| Source: | ENDOCRINE PRACTICE; v. 28, n. 9, p. 7-pg., 2022-09-05. |
| Abstract | |
Objective: Mild androgen insensitivity syndrome (MAIS) belongs to the androgen insensitivity syndrome (AIS) spectrum, an X-linked genetic disease that is the most common cause of differences in sex development. Unfortunately, AIS studies mainly focus on the partial and complete phenotypes, and the mild phenotype (MAIS) has been barely reported. Our purpose is to explore the MAIS facets, clinical features, and molecular aspects. Methods: We collected all reported MAIS cases in the medical literature and presented them based on the phenotype and molecular diagnosis. Results: We identified 49 different androgen receptor (AR) mutations in 69 individuals in the literature. We compared the AR mutations presented in individuals with MAIS with AR mutations previously re-ported in other AIS phenotypes (partial and complete) regarding the type, location, genotype-phenotype correlation, and functional studies. Conclusion: This review provides a landscape of the mild phenotype of AIS. Most patients with MAIS present with male factor infertility. Therefore, AR gene sequencing should be considered during male factor infertility investigation, even in males with typically male external genitalia. In addition, MAIS can be part of other medical conditions, such as X-linked spinal and bulbar muscular atrophy (Kennedy disease). (C) 2022 AACE. Published by Elsevier Inc. All rights reserved. (AU) | |
| FAPESP's process: | 19/26780-9 - Molecular and epigenetic research on Differences in Sexual Development (DSD): impact of scientific diffusion on the relationship between science and society |
| Grantee: | Berenice Bilharinho de Mendonça |
| Support Opportunities: | Research Projects - Thematic Grants |