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PROP1-Related Combined Pituitary Hormone Deficiency

  • What is 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.

  • How is PROP1-Related Combined Pituitary Hormone Deficiency inherited?

    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.

  • What does it mean to be a carrier?

    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.

  • How common is PROP1-Related Combined Pituitary Hormone Deficiency?

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

  • What is analysed?

    Full gene sequencing

AFFECTED SYSTEMS
Brain
Muscle
Blood
Eye
Liver
Bones
Immune
Hearing
Lungs
Cancer
Kidneys
Metabolic
CARRIER RATES
Ethnicity Detection Rate Carrier Frequency
General Population > 98% 1 in 40