Androgen receptor mutations in familial androgen insensitivity syndrome: A metabolic reprogramming pathway to type 2 diabetes susceptibility

Table 5 Framework for individualized management and intervention pathways in androgen insensitivity syndrome

Management/intervention domain	Core measures	Notes/targets
Diagnosis and genetic counseling	AR gene sequencing	Confirm AIS subtype and hereditary risk; inform reproductive and parenting decisions
	Karyotype analysis
	Familybased genetic counseling
Gonadal management (tumor surveillance)	Periodic ultrasound/MRI followup	Lower the risk of gonadal malignancy while allowing testicular hormones to support skeletal maturation
	Elective orchiectomy after puberty
HRT	Initiate estradiol after puberty or postorchidectomy in CAIS	Maintain secondary sexual characteristics and prevent complications such as osteoporosis
	Androgen therapy in PAIS as indicated
Bonemetabolic and cardiometabolic care	Regular monitoring of bonemineral density, blood glucose, and lipid profile	Control body weight, enhance insulin sensitivity, and protect against osteoporosis
	Personalized advice on diet and exercise
Psychological and social support	Multidisciplinary team assessment	Facilitate genderidentity adaptation and mitigate psychological distress
	Professional psychological counseling
Scheduled followup	Tracking of growth parameters, endocrine hormones, and tumor markers	Adjust therapy dynamically to achieve truly individualized care

AIS: Androgen insensitivity syndrome; AR: Androgen receptor; CAIS: Complete androgen insensitivity syndrome; HRT: Hormonereplacement therapy; MRI: Magnetic resonance imaging; PAIS: Partial androgen insensitivity syndrome.