Analysis and Discussion of Clinical Features of Complete Androgen Insensitivity Syndrome Combined with Müllerian Duct Remnants
10.13471/j.cnki.j.sun.yat-sen.univ(med.sci).20241030.005
- VernacularTitle:完全性雄激素不敏感综合征合并苗勒管残留临床特点的分析与探讨
- Author:
Shanjiao QIU
1
,
2
;
Yuying XU
;
Jun ZHANG
;
Delu CHEN
;
Cheng XU
;
Huamei MA
;
Juncheng LIU
;
Shaobin LIN
Author Information
1. 中山大学附属第一医院儿科,广东广州 510080
2. 深圳市罗湖医院集团黄贝岭社区健康服务中心,广东深圳 518000
- Keywords:
complete androgen insensitivity syndrome;
Müllerian duct;
Müllerian duct remnants;
disorders of sex development;
androgen receptor gene
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2024;45(6):1026-1035
- CountryChina
- Language:Chinese
-
Abstract:
[Objective]To present a case of complete androgen insensitivity syndrome (CAIS) coexisting with Müllerian duct remnants (MDR) and to review previous reports in the literature to enhance the understanding of the clinical manifestations and pathophysiology of CAIS.[Methods]The study aimed to diagnose complete androgen insensitivity syndrome (CAIS) by conducting physical examinations,chromosomal analysis,whole exome sequencing,laboratory tests including follicle-stimulating hormone (FSH),luteinizing hormone (LH),total testosterone,estradiol,anti-Müllerian hormone (AMH),inhibin B,dehydroepiandrosterone sulfate (DHEAS),androstenedione,17-hydroxyprogesterone,and imaging studies such as pelvic ultrasound and pelvic magnetic resonance imaging (MRI). Laparoscopy revealed the presence of Müllerian duct structures. Additionally,the study reviewed similar cases of CAIS combined with Müllerian duct remnants reported in the literature.[Results]The child presented with female phenotype,elevated levels of FSH,LH,and testosterone. Pelvic MRI showed bilateral cryptorchidism without visible uterus or fallopian tubes. The chromosomal karyotype was 46,XY,and whole exome sequencing identified a pathogenic variant in the androgen receptor (AR) gene,c.2359C>T (p.Arg787*). No abnormalities were found in the AMH and AMHR2 gene tests. Laparoscopic exploration revealed underdeveloped testes and an underdeveloped uterus. Pathology showed the presence of fallopian tube-like structures next to the testicles. A total of 11 cases with genetically confirmed diagnosis of CAIS coexisting with MDR were retrieved from the database. The findings suggest that the initial clinical presentation,biochemical data,and gonadal pathology of CAIS with MDR are similar to those without MDR.[Conclusion]The study reports a patient with CAIS coexisting with MDR,which broadens the clinical spectrum of CAIS and provides a perspective for basic research on Müllerian duct regression that is independent of the AMH-AMHR2 signaling pathway.
