Patients with congenital hypopituitarism are born without normal production of 1 or more of the hormones normally produced in the pituitary gland. The clinical spectrum varies widely; although a number of genetic causes are known, most cases are thought to be idiopathic. Mutations in transcription factors involved in various stages of pituitary development can lead to combined pituitary hormone deficiencies. Many clinical signs and symptoms of congenital hypopituitarism are nonspecific and include poor weight gain, hypoglycemia, jaundice, and cholestasis; examination findings include midline defects. Diagnosis should include cranial imaging with magnetic resonance imaging, as well as laboratory evaluation for pituitary hormone deficits. Hormone replacement should be initiated after the diagnoses of deficiencies are confirmed.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health