Traits

Traits linked to HSD11B1

hydroxysteroid 11-beta dehydrogenase 1

The Human Phenotype Ontology links 17 traits to HSD11B1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the endocrine system

Trait	How often it is seen
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio	Always
Abnormal circulating deoxycorticosterone level	Often (30–79%)
Congenital adrenal hyperplasia	Often (30–79%)
Elevated serum 11-deoxycortisol	Often (30–79%)
Increased circulating androgen concentration	Often (30–79%)
Premature pubic hair growth	Often (30–79%)
Decreased circulating renin concentration	Sometimes (5–29%)
Early onset of puberty	Sometimes (5–29%)
Premature adrenarche	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Reduced urine tetrahydrocortisol plus 5-alpha-THF to tetrahydrocortisone ratio	Always
Body fails to respond to insulin	Often (30–79%)
Low blood potassium levels	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
High blood pressure	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Menstrual irregularity	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Darkened and thickened skin	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Advanced bone age	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Obesity	Often (30–79%)

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 HSD11B1 and how often each is seen. Find out more at hpo.jax.org.

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