ABSTRACT
Objective:
To
report the clinical characteristics,
diagnosis, and
treatment of 2 cases of X-linked acrogigantism(X-LAG).
Methods:
The clinical information of two
patients were retrospectively reported, and peripheral
blood DNA was collected for copy number variations
detection.
Results:
Both
patients had onset at age of two, with common clinical characteristics including linear
growth acceleration, mild facial coarsening, enlargement of
hands and
feet, increased
appetite, and
snoring, etc. The heights Z scores of the two
patients before
treatment were + 6.86 and + 6.53, respectively.
Growth hormone(GH)
glucose inhibition test showed that GH nadir values were over 1 ng/mL and
insulin-like growth factor-Ⅰ(IGF-Ⅰ) were 586.0 ng/mL and 1 042.0 ng/mL, respectively.
Patient 1 received three cycles of
octreotide microspheres therapy followed by
surgery, and achieved clinical and biochemical remission.
Patient 2 had lanreotide for 5.5 years but failed biochemical remission. Microduplication of Xq26.3, which contained pathogenic
gene G-protein coupled receptor 101(GPR101), was found in germline
DNA of two
patients through copy number variation
detection, leading to the
diagnosis of X-LAG.
Conclusion:
It should be cautious of X-LAG when
children below 2 years old presents symptoms such as overgrowth and so on. Medication combined with
surgery is effective.