ArticleTranslational pediatrics2026
PEG-rhGH successfully improved the height of a patient with rare 45,X[40]/46,XY[31] disorder of sex development: the first reported case.
Article in Translational pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: 45,X/46,XY is a rare disorder of sex development (DSD). Pegylated recombinant human growth hormone (PEG-rhGH) is effective in treating growth hormone deficiency and idiopathic short stature. However, there is no research on the use of PEG-rhGH to improve height in children with DSD. Herein, we report for the first time the use of PEG-rhGH in short stature patient with 45,X/46,XY DSD. Case Description: A girl diagnosed with 45,X [40]/46,XY [31] DSD, presenting with short stature, received PEG-rhGH treatment. Her height increased by 9.9 cm in the first year, 8.6 cm in the second year, and 2 cm in the first 3 months of the third year (equivalent to an annualized growth rate of 8.0 cm per year). Meanwhile, the patient's IGF-1 level exhibited an elevation. During the 2.5-year treatment, thyroid function remained normal. Although one isolated blood glucose value of 2.97 mmol/L indicated mild hypoglycemia, overall glucose levels were stable with no clinically significant abnormalities. Additionally, no other obvious adverse effects were observed. Conclusions: PEG-rhGH demonstrated a favorable efficacy and long-term safety profile in improving the height growth rate of patients with 45,X[40]/46,XY[31] DSD. This study is the first to successfully apply PEG-rhGH to the treatment of 45,X[40]/46,XY[31] DSD.
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