Traits

Traits linked to NR5A1

nuclear receptor subfamily 5 group A member 1

The Human Phenotype Ontology links 84 traits to NR5A1, by body system: features seen in people with one of the gene's rare conditions.

NR5A1

Abnormality of the genitourinary system

Trait	How often it is seen
Early menopause	Always
Gonadal dysgenesis	Always
Abnormal internal genitalia	Very often (80–99%)
Abnormal labia morphology	Very often (80–99%)
Abnormal male internal genitalia morphology	Very often (80–99%)
Abnormal morphology of female internal genitalia	Very often (80–99%)
Abnormal scrotal rugation	Very often (80–99%)
Abnormal scrotum morphology	Very often (80–99%)
Abnormal sex determination	Very often (80–99%)
Abnormal sperm development	Very often (80–99%)
Abnormal vagina morphology	Very often (80–99%)
Abnormality of the uterus	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Ambiguous external genitalia	Very often (80–99%)
Cleft of scrotum	Very often (80–99%)
Decreased fertility	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Dysplastic testis	Very often (80–99%)
Enlarged clitoris	Very often (80–99%)
Female external genitalia in individual with 46,XY karyotype	Very often (80–99%)
Hypospadias	Very often (80–99%)
Male infertility	Very often (80–99%)
Male pseudohermaphroditism	Very often (80–99%)
Non-obstructive azoospermia	Very often (80–99%)
Polycystic ovaries	Very often (80–99%)
Primary amenorrhea	Very often (80–99%)
Short penis	Very often (80–99%)
Smaller than typical growth of scrotum	Very often (80–99%)
Streak ovary	Very often (80–99%)
True hermaphroditism	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Underdeveloped vagina	Very often (80–99%)
Undescended testes	Very often (80–99%)
Urogenital sinus anomaly	Very often (80–99%)
Vanishing testis	Very often (80–99%)
Absent/small uterus	Often (30–79%)
Gonadoblastoma	Often (30–79%)
Obstructive azoospermia	Often (30–79%)
Ovotestis	Often (30–79%)
Sex reversal	Often (30–79%)
Exaggerated rugosity of the labia majora	Sometimes (5–29%)
Fused labia majora	Sometimes (5–29%)
Ovarian gonadoblastoma	Sometimes (5–29%)
Penoscrotal hypospadias	Sometimes (5–29%)
Previous menstrual periods stop	Sometimes (5–29%)
Retractile testis	Sometimes (5–29%)
Small uterus	Sometimes (5–29%)
Testicular gonadoblastoma	Sometimes (5–29%)
Nephroblastoma	Rarely (1–4%)
Nephrotic syndrome	Rarely (1–4%)
Cryptozoospermia	Not recorded
Low sperm count	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Elevated circulating follicle stimulating hormone level	Always
Elevated circulating luteinizing hormone level	Always
Decreased function of male gonad	Very often (80–99%)
Decreased serum estradiol	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Delayed puberty	Very often (80–99%)
Hypergonadotropic hypogonadism	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)
Absence of secondary sex characteristics	Sometimes (5–29%)
Adrenal insufficiency	Sometimes (5–29%)
Primary gonadal insufficiency	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Very often (80–99%)
Delayed bone maturation	Often (30–79%)
Low solidness and mass of the bones	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis of vertebrae	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Abnormality of secondary sexual hair	Very often (80–99%)
Limited armpit hair	Very often (80–99%)
Sparse pubic hair	Very often (80–99%)
Absent pubic hair	Sometimes (5–29%)

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)
Absent/small breasts	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Rarely (1–4%)

Abnormality of limbs

Trait	How often it is seen
Long slender fingers	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormal cardiovascular system morphology	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Sometimes (5–29%)

Abnormality of the nervous system

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

Abnormality of the respiratory system

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

Growth abnormality

Trait	How often it is seen
Short stature	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Laboratory abnormality	Sometimes (5–29%)

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 NR5A1 and how often each is seen. Find out more at hpo.jax.org.

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