What Your Test Results Mean:

Carriers are not expected to show symptoms. You and your partner or donor would both have to be carriers of combined pituitary hormone deficiency for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Carrier testing of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Combined pituitary hormone deficiency is an inherited disorder that causes a deficiency or shortage of many hormones that are produced by the pituitary gland. A deficiency of these hormones can affect the development of many parts of the body. Affected individuals typically first show signs of short stature or a failure to grow at an expected rate in childhood. Additional signs and symptoms can include hypothyroidism, delayed or absent puberty, infertility, or an impaired immune system. Very rarely, affected individuals may have an intellectual disability.

Prognosis:

Prognosis for individuals with combined pituitary hormone deficiency is considered good. Affected individuals typically live a normal lifespan.

Treatment:

Treatment for combined pituitary hormone deficiency consists of hormone replacement therapy.