Translational pediatrics · 2026
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.
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Li Shitao, Ge Rui, Liao Nana, Su Ying, Lei Can, Hu Shuxin, Wang Yanling, Ren Ying
Аннотация
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.
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.