combined pituitary hormone deficiency, PROP1-related

What Is Combined Pituitary Hormone Deficiency, PROP1-Related?

Combined pituitary hormone deficiency (CPHD), PROP1-related is an inherited disease that causes a shortage of certain hormones in the body. The severity of hormone deficiencies can vary from individual to individual, even among those who share the same disease-causing genetic mutation(s). However, the typical deficiency leaves those with the condition small in stature (a condition known as pituitary dwarfism) and deficient in the hormones required to fully undergo puberty. PROP1-related CPHD refers to those cases of CPHD caused by mutations in the PROP1 gene.

Infants with CPHD are often born with a normal height and weight, although some may have low blood-sugar levels (hypoglycemia). At some point in late infancy or childhood they fail to grow at the expected rate due to a deficiency in growth hormone and without treatment, they will be extremely small in stature.

Individuals with CPHD also show a deficiency in additional hormones produced by the pituitary gland. Deficiencies of these hormones can lead to an under-active thyroid gland (mild hypothyroidism), delayed or absent puberty, and infertility. Untreated males usually have a small penis and testes. Women may begin to menstruate, but require hormone replacement in order to avoid early menopause. Persistent weakness, fever, abdominal pain, and weight loss have also been reported in some cases.

How Common Is Combined Pituitary Hormone Deficiency, PROP1-Related?

PROP1 is one of several genes known to be responsible for CPHD. The incidence of CPHD is 1 in 8,000 worldwide. Approximately 10% of CPHD is caused by mutations in PROP1, but this frequency varies greatly by population.

How Is Combined Pituitary Hormone Deficiency, PROP1-Related treated?

In individuals with CPHD, injections of biosynthetic growth hormone often begin at diagnosis until approximately the age of 17. The replacement of other hormones is initiated when the lack of proper hormone levels is detected. Hormone replacement can help induce puberty in both boys and girls, and some of these individuals may be fertile.

What Is the Prognosis for a Person with Combined Pituitary Hormone Deficiency, PROP1-Related?

Individuals with CPHD are typically able to live a normal lifespan.