Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C. Han, Constantine A. Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke’s cleft cyst (RCC) is a remnant of Rathke’s pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy …