Acromegaloidism With Normal Growth Hormone Secretion Associated With X-Tetrasomy
June 2006
in “
Pituitary
”
TLDR A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
The document describes the case of a 26-year-old female who presented with symptoms similar to acromegaly, such as a progressive coarsening of facial features, but was found to have normal growth hormone levels. Upon further evaluation, she was diagnosed with acromegaloidism, a condition characterized by acromegaly-like features without the associated hormone hypersecretion. Cytogenetic analysis revealed an unusual X-Tetrasomy chromosome pattern. The discussion highlights the importance of considering X-Tetrasomy in the differential diagnosis of acromegaloidism and suggests that genes on the X-chromosome, like the SHOX gene, could be responsible for the patient's tall stature and may play a role in the development of facial structures. The document emphasizes the need for more research on X-chromosome genes to better understand their impact on growth.
