TY - JOUR
T1 - Congenital hypopituitarism in neonates
AU - Cherella, Christine E.
AU - Cohen, Laurie E.
N1 - Publisher Copyright:
© 2018, American Academy of Pediatrics. All rights reserved.
PY - 2018/12/1
Y1 - 2018/12/1
N2 - 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.
AB - 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.
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U2 - 10.1542/neo.19-12-e742
DO - 10.1542/neo.19-12-e742
M3 - Article
AN - SCOPUS:85059810454
SN - 0191-9601
VL - 19
SP - e742-e752
JO - NeoReviews
JF - NeoReviews
IS - 12
ER -