Combined pituitary hormone deficiency (CPHD), specifically PROP1-related CPHD, is an inherited condition that leads to hormone shortages in the body.
Typically, this deficiency results in short stature (known as pituitary dwarfism) and an inability to undergo puberty due to hormone insufficiency. The severity of hormone deficiencies can vary among affected individuals. Infants with CPHD are usually born with normal height and weight, although some may experience low blood sugar levels (hypoglycemia). However, in late infancy or childhood, they fail to grow at the expected rate due to a shortage of growth hormone. Without treatment, they will remain significantly smaller in stature. Individuals with CPHD also exhibit deficiencies in other hormones produced by the pituitary gland. These deficiencies can lead to mild hypothyroidism, delayed or absent puberty, and infertility. Untreated males often have smaller genitalia, while women may begin menstruating but require hormone replacement to avoid early menopause. Some cases have reported persistent weakness, fever, abdominal pain, and weight loss as additional symptoms.
CPHD is caused by pathogenic (disease-causing) variants in different genes. The carrier screening test looks at the PROP1 gene which exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Another name for this condition is panhypopituitarism.