Panhypopituitarism X-linked is a rare genetic condition that affects the pituitary gland. The pituitary gland produces many important hormones, which are chemicals in our blood that carry messages to different parts of our body. In panhypopituitarism, the pituitary gland produces low levels of many hormones. Since the pituitary gland controls many different hormones, the symptoms are diverse. The main symptoms are low blood sugar (hypoglycemia), fatigue, delayed puberty, short stature (height), and developmental and mental delays. Boys may have a micropenis.
Panhypopituitarism is inherited in an X-linked recessive manner. This means that the gene is on the X-chromosome. Females inherit an X chromosome from mom and an X chromosome from dad. Males inherit an X chromosome from mom and a Y chromosome from dad. Since males only have one X-chromosome, if they inherit an X chromosome that has the changed (mutated) gene, they will develop panhypopituitarism. Females would need two X chromosomes with the changed gene to develop panhypopituitarism.
Panhypopituitarism is typically diagnosed in the early years of childhood. A newborn will be checked for specific visible defects that could indicate pituitary malfunction. A child with panhypopituitarism will be jittery and sluggish. A doctor may perform a blood test that measures the level of pituitary hormones, a semen analysis to check for male infertility, and a magnetic resonance imaging (MRI) scan of the pituitary. Growth and mental development will be assessed over a couple years.
The main focus of treatment is to elevate the pituitary hormones to a normal level. Depending on the severity of the condition, an individual may undergo surgery of the pituitary gland. Some males may use sex steroids to advance or aid in puberty. If you or a family member has been diagnosed with x-linked panhypopituitarism, talk to your doctor about the most current treatment options.
Description Last Updated: Feb 26, 2018