Traits

Traits linked to AR

androgen receptor

The Human Phenotype Ontology links 88 traits to AR, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Perineal hypospadias	Always
Undescended testes	Always
Abnormal erection	Very often (80–99%)
Abnormal morphology of female internal genitalia	Very often (80–99%)
Abnormal uterine cervix morphology	Very often (80–99%)
Absent ovary	Very often (80–99%)
Absent uterus	Very often (80–99%)
Absent/small fallopian tube	Very often (80–99%)
Bilateral cryptorchidism	Very often (80–99%)
Blind vagina	Very often (80–99%)
Decreased fertility	Very often (80–99%)
Displacement of the urethral meatus	Very often (80–99%)
Female external genitalia in individual with 46,XY karyotype	Very often (80–99%)
Male infertility	Very often (80–99%)
Male sexual dysfunction	Very often (80–99%)
Primary amenorrhea	Very often (80–99%)
Ambiguous external genitalia	Often (30–79%)
Hypospadias	Often (30–79%)
Ventral shortening of foreskin	Often (30–79%)
Absent sperm in semen	Sometimes (5–29%)
Cleft of scrotum	Sometimes (5–29%)
Enlarged clitoris	Sometimes (5–29%)
Fused labia majora	Sometimes (5–29%)
Germ cell neoplasia	Sometimes (5–29%)
Short penis	Sometimes (5–29%)
Testicular cancer	Sometimes (5–29%)
Testicular degeneration	Sometimes (5–29%)
Urogenital sinus anomaly	Sometimes (5–29%)
Urethral diverticulum	Rarely (1–4%)
Absent vas deferens	Not recorded
Infertility	Not recorded
Male pseudohermaphroditism	Not recorded
Prostate cancer	Not recorded
Underdeveloped labia	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating luteinizing hormone level	Very often (80–99%)
Increased circulating antimullerian hormone concentration	Very often (80–99%)
Increased serum estradiol	Very often (80–99%)
Increased testosterone	Very often (80–99%)
Abnormal circulating estrogen level	Often (30–79%)
Delayed puberty	Often (30–79%)
Abnormality of the endocrine system	Sometimes (5–29%)
Androgen insufficiency	Sometimes (5–29%)
Abnormal circulating follicle-stimulating hormone concentration	Rarely (1–4%)
Decreased activity of gonads	Not recorded
Elevated circulating follicle stimulating hormone level	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal gait	Very often (80–99%)
Abnormality of movement	Very often (80–99%)
Decreased reflex response	Very often (80–99%)
Difficulty articulating speech	Very often (80–99%)
Anxiety	Often (30–79%)
Depression	Sometimes (5–29%)
High pitched voice	Sometimes (5–29%)
Damage to nerves that sense feeling	Not recorded
Muscle twitch	Not recorded
Peripheral neuropathy	Not recorded
Tremor	Not recorded

Abnormality of the integument

Trait	How often it is seen
Absent axillary hair	Often (30–79%)
Absent pubic hair	Often (30–79%)
Limited armpit hair	Often (30–79%)
Sparse pubic hair	Often (30–79%)
Abnormality of secondary sexual hair	Sometimes (5–29%)
Absent facial hair	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Muscle degeneration	Very often (80–99%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Abnormality of the rib cage	Not recorded
Bulbar palsy	Not recorded
Muscle spasm	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Absent anus	Sometimes (5–29%)
Birth defect in which part of esophagus did not develop	Sometimes (5–29%)
Omphalocele	Sometimes (5–29%)
Inguinal hernia	Not recorded
Poor swallowing	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating lipid concentration	Sometimes (5–29%)
Insulin insensitivity	Sometimes (5–29%)
Noninsulin-dependent diabetes	Sometimes (5–29%)
Elevated blood creatine phosphokinase	Not recorded

Growth abnormality

Trait	How often it is seen
Tall stature	Very often (80–99%)
Small for gestational age	Rarely (1–4%)
Growth abnormality	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Sometimes (5–29%)
Abnormality of the mouth	Not recorded

Abnormality of limbs

Trait	How often it is seen
Increased size of calf muscles	Not recorded
Limb muscle weakness	Not recorded

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Not recorded

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)

Abnormality of the immune system

Trait	How often it is seen
Acne	Rarely (1–4%)

Abnormality of the voice

Trait	How often it is seen
Inability to produce voice sounds	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to AR and how often each is seen. Find out more at hpo.jax.org.

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