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

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.

• Authors: Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C Han, Constantine A Stratakis
• Journal: Hormones (Athens, Greece) (Hormones (Athens)) Vol. 16 Issue 1 Pg. 92-98 (Jan 2017) ISSN: 2520-8721 [Electronic] Switzerland
• PMID: 28500832 (Publication Type: Case Reports, Journal Article)

Topics

• Central Nervous System Cysts (pathology)
• Child
• Craniofacial Abnormalities
• Female
• Humans
• Hypopituitarism (diagnosis, pathology)
• Intellectual Disability
• Karyotype
• Magnetic Resonance Imaging
• Pituitary Gland (diagnostic imaging, pathology)
• Pituitary Neoplasms (complications)
• Sex Chromosome Aberrations