Traits

Traits linked to FSHB

follicle stimulating hormone subunit beta

The Human Phenotype Ontology links 27 traits to FSHB, 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
Decreased circulating follicle stimulating hormone concentration	Always
Decreased function of male gonad	Always
Elevated circulating luteinizing hormone level	Always
Female hypogonadism	Always
Gonadotropin deficiency	Always
Decreased serum estradiol	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Delayed puberty	Very often (80–99%)
Delayed start of first period	Very often (80–99%)
Hypogonadotropic hypogonadism	Very often (80–99%)
Decreased activity of gonads	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Infertility	Always
Primary amenorrhea	Always
Decreased testicular size	Very often (80–99%)
Abnormal shape of sperm	Often (30–79%)
Absent sperm in semen	Often (30–79%)
Decreased female sex drive	Often (30–79%)
Hyperplasia of the Leydig cells	Often (30–79%)
Light or infrequent menstrual periods	Often (30–79%)
Low sperm count	Often (30–79%)
Testicular degeneration	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Very often (80–99%)
Sparse pubic hair	Very often (80–99%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Delayed bone maturation	Very often (80–99%)
Decreased muscle mass	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Lost smell	Not recorded

Abnormality of the breast

Trait	How often it is seen
Two underdeveloped breasts	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 FSHB and how often each is seen. Find out more at hpo.jax.org.

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