Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families
Authors' conclusion
Most children with PAIS were raised as males. The abundance of maternally inheritable variants and the presence of case of preserved fertility indicate the fertility potential in patients with AIS. Hence, we recommend a careful evaluation of gonadectomy when fertility preservation is being considered.
Study context
- Population
- Patients with androgen insensitivity syndrome (46,XY, androgen receptor (AR) gene variants), single center in China; median age at first visit 1.83 years (0.92–4.17)single centre, China
- Participants
- 117 patients
- Exposure
- Complete AIS (CAIS) vs partial AIS (PAIS)
- CAISn = 53
- PAISn = 64
- Outcome
- Gender at last follow-up
- Follow-up
- Last
Methodological detailssingle-centre
- Single-centre
Main finding
As reported in the abstract
Observational data: associations, not effects.
Further findings
AR variants
- AR variants identified
- 88
- Unreported variants
- 31 (35%)
- Variants occurring more than once
- 24% (21/88)
- Most frequent at amino acid 841: p.R841H
- n = 5
- p.R841C
- n = 2
- p.N706S, p.R856H, p.A871V each observed
- 4 times
Inheritance
- Patients with parental verification who inherited variants from mothers
- 83%
- 1 case inherited variants from maternal grandfather with hypospadias
External masculinization score at first visit
- External masculinization score
- 3.0 (2.0-6.0)
Original publication
Analysis of genetic and clinical characteristics of androgen insensitivity syndrome: a cohort study including 12 families. Eur J Endocrinol. Published 28 June 2024. doi:10.
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