IEMbase 0129: AR-related Androgen receptor deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 129 |
| Nosology | 24.2.23.01 |
| Gene | AR |
| External IDs | OMIM:300068; ORPHA:754 |
| Generated mapping | MAPPED, high confidence |
| Candidate DisMech targets | Complete_Androgen_Insensitivity_Syndrome.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents this as AR-related androgen receptor deficiency, with alternate labels testicular feminization, androgen insensitivity syndrome, and AIS. Treatability is marked unknown.
The characteristic biochemical row is normal DHT. Clinical rows include absent axillary hair, absent pubic hair, and absent uterus. No treatment rows are listed.
DisMech phenotype coverage
Complete_Androgen_Insensitivity_Syndrome.yaml is the generated local target.
It describes X-linked AR variants in 46,XY individuals with age-appropriate
androgen production but target-tissue androgen resistance, leading to female
external genitalia, absent or sparse pubic/axillary hair, primary amenorrhea,
absent Mullerian structures, and undescended testes.
The local phenotype coverage includes absent uterus, sparse or absent axillary/pubic hair, primary amenorrhea, blind vagina, cryptorchidism, female external genitalia in 46,XY individuals, elevated LH, increased testosterone, increased estradiol, increased AMH, and germ-cell tumor risk. Treatments include individualized gonadectomy, estrogen replacement, and vaginal dilation.
Concordance and completeness
Judgement: correct current mapping, with a label-scope caveat.
The DisMech CAIS entry covers the specific IEMbase clinical signals of absent uterus and absent terminal sexual hair well. It is also much richer for AR mechanism, 46,XY phenotype, hormone profile, and management. IEMbase's normal DHT row is a useful reminder that AIS is androgen-resistance physiology rather than impaired DHT synthesis.
The IEMbase label "androgen receptor deficiency" and alternate "AIS" are broad; if separate partial or mild AIS records are curated later, they should not be forced into the complete AIS target without subtype review.
Curation actions
- Keep
Complete_Androgen_Insensitivity_Syndrome.yamlas the current target for this IEMbase record. - Consider adding normal DHT as a differentiating biochemical row, especially relative to SRD5A2 deficiency.
- Preserve the broader AIS label-scope caveat for future subtype handling.