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

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

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 hypothy-roidism) 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.

Original languageEnglish (US)
Pages (from-to)92-98
Number of pages7
JournalHormones
Volume16
Issue number1
DOIs
StatePublished - Jan 1 2017

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Central Nervous System Cysts
Karyotyping
Adrenal Insufficiency
Pituitary Hormones
Aneuploidy
Pituitary Gland
Intellectual Disability
Growth Hormone
Cysts
Pressure
Brain
Tetrasomy X
Combined Pituitary Hormone Deficiency

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism

Cite this

Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke’s cleft cyst. / Uppal, Surabhi; Jee, Youn Hee; Lightbourne, Marissa; Han, Joan; Stratakis, Constantine A.

In: Hormones, Vol. 16, No. 1, 01.01.2017, p. 92-98.

Research output: Contribution to journalArticle

Uppal, Surabhi ; Jee, Youn Hee ; Lightbourne, Marissa ; Han, Joan ; Stratakis, Constantine A. / Combined pituitary hormone deficiency in a girl with 48, XXXX and Rathke’s cleft cyst. In: Hormones. 2017 ; Vol. 16, No. 1. pp. 92-98.
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