PROP1-related combined pituitary hormone deficiency

What is PROP1-related Combined Pituitary Hormone Deficiency?

PROP1-related combined pituitary hormone deficiency (CPHD) is an inherited disease that causes a shortage of certain hormones in the body. This typically leaves affected people small in stature and reliant on hormone replacement therapy in order to develop secondary sex characteristics.

The severity of hormone deficiencies can vary from person to person, even among those who share the same disease-causing genetic mutation(s).

Infants with PROP1-related CPHD are often born with a normal height and weight. At some point between the ages of 9 months to 8 years, they fail to grow at the expected rate due to a deficiency in growth hormone. Without treatment, they will be extremely small in stature.

In addition to being deficient in growth hormone, people with PROP1-related CPHD show a deficiency in one or all of the following hormones produced by the pituitary gland: thyroid-stimulating hormone, luteinizing hormone, follicle-stimulating hormone, prolactin, and occasionally adrenocorticotrophic hormone. People with PROP1-related CPHD often develop an underactive thyroid gland in childhood, although the deficiency is usually mild.

People with the disease often have delayed or incomplete development of secondary sex characteristics. They are often infertile. Men usually have a small penis and testes and women may begin to menstruate, but will require hormone replacement in order to avoid early menopause.

There may also be some degree of deficiency in the adrenal gland, leading to symptoms such as persistent weakness, fever, abdominal pain, and weight loss.

PROP1-related CPHD does not affect intelligence.

How common is PROP1-related Combined Pituitary Hormone Deficiency?

PROP1 is one of several genes known to be responsible for CPHD. Combined these genes cause CPHD in roughly 1 in 20,000 people. Among people with CPHD, 30 to 50% have mutations in PROP1.

How is PROP1-related Combined Pituitary Hormone Deficiency treated?

Injections of biosynthetic growth hormone are often begun when PROP1-related CPHD is detected until roughly age 17. The replacement of other hormones is often recommended as their deficiencies are noted.

Hormone replacement can induce the development of secondary sexual characteristics in both boys and girls and it is possible that they will be able to have children.

What is the prognosis for a person with PROP1-related Combined Pituitary Hormone Deficiency?

People with PROP1-related CPHD are typically able to live a normal lifespan.