Recombinant human growth hormone in the treatment of C.836A/G-caused short stature in a girl: a case report and literature review

When we treated the C.836A/G-caused short stature girls with rhGH (recombinant growth hormone) for short stature, the effect of height improvement was good, but in the course of treatment, there was a side effect of leukopenia, which led to the interruption of treatment. We consult the literature, did not find such relevant reports, therefore, the objective of this study is to share the novel treatment method of C.836A/G-caused short stature and report the treatment response and adverse events of the child with C.836A/G-caused short stature. The clinical data of 1 child with C.836A/G-caused short stature were collected, and the efficacy of rhGH in the treatment of this child was observed. The female child aged 5 years and 5 months old was treated at our hospital for growth retardation of >5 years. The child was a slightly picky eater, had good sleep quality (she often fell asleep after 21:00), and did not exercise much before the age of 3-4 years. Routine blood results and other relevant indicators were also monitored during the treatment. The growth rate of the child was followed up over a period of 16 months using needle withdrawal, and routine blood examinations were conducted regularly. With the application of rhGH, the child with C.836A/G-caused short stature gained 9.6 cm in height at 11 months, and had a height of standard deviation score of -1.01. Throughout the treatment, the blood hemoglobin and platelets of the child were normal, but the content of the granulocytes was lower than the normal value. Some 16 months after the discontinuation of the rhGH therapy, the granulocytes gradually returned to the normal range, but the growth rate of the child declined obviously. Recombinant growth hormone treatment of this case of C.836A/G-caused short stature is effective, but in the course of treatment, we need to pay attention to the side effects of the hematological system. Due to our limited clinical experience with these cases, please correct us for any inaccuracies.