Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke’s cleft cyst View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-01

AUTHORS

Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C. Han, Constantine A. Stratakis

ABSTRACT

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. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC. CONCLUSION: We report the first case in the literature of a girl with 48, XXXX and combined pituitary hormone deficiency due to Rathke's cyst. More... »

PAGES

92-98

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.14310/horm.2002.1723

DOI

http://dx.doi.org/10.14310/horm.2002.1723

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1085466537

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28500832


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