Effective Long-term Pediatric Pegvisomant Monotherapy to Final Height in X-linked Acrogigantism.
JCEM Case Rep
; 1(3): luad028, 2023 May.
Article
in En
| MEDLINE
| ID: mdl-37908565
ABSTRACT
X-linked acrogigantism (X-LAG) is characterized by extreme tall stature from early childhood resulting from duplication of the GPR101 gene, in turn resulting in GH excess. Most cases present with pituitary tumors secreting GH and prolactin. Diffuse pituitary hyperplasia is uncommon and normal prolactin is rare. We present a girl with tall stature from 3 years of age; her height was +4.25 SD score at 5â
years, with no signs of syndromic disease. She had significant GH excess, serum IGF-1 4 times the upper limit of normal and normal circulating GHRH, with normal pituitary magnetic resonance imaging over 13â
years. No abnormalities were found in either the AIP or MEN1 genes. Treatment with somatostatin analogues and dopamine agonists showed minimal therapeutic benefit, but significant side effects. She tested positive for duplication of GPR101 6â
years after the initial diagnosis. She was then initiated on pegvisomant aged 12â
years, achieving prompt IGF-1 normalization and growth cessation. Aged 16.5â
years, she showed escape from IGF-1 control, and height velocity increased, but this responded well to a dose increase in pegvisomant, with reassuring long-term pediatric safety over 7â
years. Her final height is +2.9 SD score. Currently, life-long pegvisomant treatment is planned with genetic counselling regarding future offspring.
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Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
JCEM Case Rep
Year:
2023
Document type:
Article
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