Abstract
Hypopituitarism could have been overlooked so far in the patients with 9q subtelomere deletion syndrome (9qSTDS); thus, further investigations or reevaluation of clinical information, especially hormonal evaluations, are warranted to determine whether hypopituitarism is a rare or relatively common presentation in patients with 9qSTDS.
Keywords:
9q subtelomere deletion syndrome; array comparative genomic hybridization; central adrenal insufficiency; hypopituitarism; whole‐exome sequence.
