Clinical Profile and Response to Recombinant Growth Hormone in Girls with Turner Syndrome: Experience from a Tertiary Care Centre in North India.

Abstract

Introduction: We aimed to describe the clinical presentation and response to recombinant growth hormone (rGH) in Indian girls with Turner syndrome (TS).

Methods: This retrospective study included 33 girls with TS attending a tertiary care hospital in Northern India between 2004 and 2023. Data on clinical presentation, cytogenetics and follow-up were retrieved from clinic records. In addition, auxological data was analysed for girls who received rGH therapy.

Results: The mean age at presentation was 9.8 ± 3.9 years (range 2-17.7 years). 57.6% had classical TS, whereas, 42.4% had variant TS karyotypes. The commonest presenting features were short stature (100%) and delayed puberty (27.3%). Autoimmune hypothyroidism and celiac disease were the commonest associated co-morbidities. Pubertal induction with estradiol was done in seven patients. Sixteen (48.5%) patients received rGH at a mean starting dose of 0.29 mg/kg/week. The mean age and bone age (BA) at rGH initiation were 10.0 ± 3.3 years and 8.3 ± 3.0 years, respectively. There were significant improvements in Turner's height standard deviation scores (SDS) (-0.7 to 0.19; P = 0.003), BA (8.3 ± 3.0 to 10.2 ± 2.9; P = 0.003) and predicted adult height (PAH) (142.2 cm to 147.4 cm; P < 0.001) over a median duration of rGH therapy of 16 months (IQR 6-51 months). There was a strong positive correlation between height gain and duration of rGH therapy (r = 0.967; P < 0.001).

Conclusion: North Indian girls with TS demonstrate a good response to rGH with improvements in height SDS, PAH, and skeletal growth. The duration of rGH significantly impacts height gain; early initiation is therefore crucial for attaining near-normal final height.