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Participant 125

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Male, age 24, with seizures, growth hormone deficiency, low levels of pituitary hormones (panhypopituitarism), and low levels of blood cells (pancytopenia)

Date of Report

Apr 29, 2019


Early in life the participant was very healthy with the exception of frequent ear infections and right sided hearing impairment (unilateral sensorineural hearing loss). At age 12, his parents began to notice that he was not growing taller like his peers and he was diagnosed with growth hormone deficiency and decreased testosterone production (hypogonadism). He began to take growth hormone at age 15. Around the same time, he was also reported to have suffered a head injury while playing sports that ultimately resulted in a hospitalization. After his concussion, his family began to notice symptoms such as problems with balance and abnormal speech. The next spring, the participant experienced his first seizure and was identified to have low levels of pituitary hormones (panhypopituitarism) and low levels of thyroid hormone (hypothyroidism).

The participant’s condition stabilized over time, but he continued to have seizures that resulted in severe complications and prolonged hospital stays. He also has hair loss (alopecia), kidney stones (nephrolithiasis), cognitive impairment and abnormal temperature regulation. Currently, the participant experiences cyclic low levels of blood cells (pancytopenia) that require transfusion and gait imbalance resulting in frequent falls. The participant was recently hospitalized for acute respiratory distress due to a suspected viral infection, but has been recovering nicely.

Symptoms / Signs
  • Seizures
  • Growth hormone deficiency
  • Low levels of pituitary hormones (panhypopituitarism)
  • Cognitive impairment
  • Hearing impairment (unilateral sensorineural hearing loss)
  • Hair loss (alopecia)
  • Kidney stones (nephrolithiasis)
  • Gait imbalance
  • Low levels of blood cells (pancytopenia)
  • Decreased testosterone production (hypogonadism)
  • Low levels of thyroid hormone (hypothyroidism)
  • Diabetes insipidus
  • Adrenal insufficiency
  • Abnormality of temperature regulation
Current Treatments
  • Desmopressin – diabetes insipidus
  • Growth hormone replacement – growth hormone deficiency
  • Hydrocortisone – adrenal insufficiency
  • Keppra, Ativan – seizures
  • Levothyroxine – hypothyroidism
  • Testosterone replacement – hypogonadism
  • Transfusion – pancytopenia
Prior Treatments
  • Dilantin – seizures
  • Lyricca – neuropathy
Considered treatments
Previously Considered Diagnoses
  • Bacterial/viral infections
  • Microdeletion/duplication disorder
  • Mitochondrial condition
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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