PROP1-Related Combined Pituitary Hormone Deficiency

PROP1-related combined pituitary hormone deficiency (CPHD) is an inherited disorder caused by deficiency of several hormones in the body. Absence of these hormones affects many parts of the body. Children affected by this condition have poor growth and short stature. They often develop hypothyroidism which can result in weight gain and fatigue. Affected individuals can also experience delayed or absent puberty and some individuals can suffer from infertility. Intellectual disability is rare. There is no cure for CPHD, but replacement therapy for the appropriate hormones can help to improve or reverse onset of symptoms. Life expectancy is normal for individuals with CPHD. One of the causes of CPHD is pathogenic variants in the PROP1 gene.

CPHD is inherited in an autosomal recessive manner. This type of inheritance requires the presence of two copies of a pathogenic variant in the gene for a person to have the genetic disease. Both parents must be carriers of a pathogenic variant in the gene in order to be at risk to have an affected child. The child must inherit a pathogenic variant from each carrier parent in order to be affected. There is a 1 in 4 chance that a baby will inherit two mutated copies of the gene and be affected when both parents are carriers.

There are generally no signs or symptoms associated with being a carrier for CPHD. However, the risk to have a child affected with CPHD is increased. Testing of reproductive partners is recommended for carriers of CPHD.

CPHD is a relatively comon and is estimated to affect 1 in 8,000 newborns worldwide.

Genetics Home Reference: combined pituitary hormone deficiency (CPHD) (http://ghr.nlm.nih.gov/)
The MAGIC foundation (http://www.magicfoundation.org)

OMIM [combined pituitary hormone deficiency-2 (CPHD2): 262600] (http://www.ncbi.nlm.nih.gov/omim)
Gene Reviews: PROP1-related combined pituitary hormone deficiency (CPHD) (http://www.ncbi.nlm.nih.gov/books/NBK1116/)

• Full gene sequencing