To explore the clinical characteristics of Silver-Russell syndrome and the effectiveness of recombinant human growth hormone treatment in affected children

Select children diagnosed at Ningxia Medical University General Hospital from January 2019 to January 2025 as the subjects of the study. A retrospective study method was used to analyze the clinical case data of the children, including clinical symptoms and signs, laboratory and imaging examinations, genetic test results, treatment, and follow-up.

1) History collection and physical examination results: Among the 4 cases, 1 and 2 were male, 3 and 4 were female, with ages ranging from 3 to 7 years; all 4 cases presented for consultation due to short stature. The patients exhibited intrauterine growth retardation, postnatal slow growth, distinct facial features (prominent forehead, triangular face, small chin, low-set ears, misaligned teeth), inwardly curved 5th fingers on both hands, and short second finger segments of the 5th little fingers. Patients 1 and 2 had thin limbs, asymmetric limbs, and mild scoliosis. 2) Laboratory and imaging examinations: All patients’ growth hormone stimulation test peak values were greater than 10 ng/mL. Thyroid function, cortisol, adrenocorticotropic hormone, insulin-like growth factor, and insulin-like growth factor binding protein were all normal. Abdominal ultrasound, cardiac ultrasound, and pituitary MRI showed no abnormalities. Patients 1 and 2 had mild spinal curvature. X-ray imaging of patient 1's left wrist showed a deformity with bending of the 5th finger bone. 3) Genetic testing results: Chromosome tests for all 6 cases indicated low methylation of the ICR1 region at 11p15. 4) Treatment and follow-up: All 4 patients were treated with recombinant human growth hormone, with height and height standard deviation (s) significantly increasing compared to pretreatment levels; blood glucose, insulin, and thyroid function were monitored. Patients 1 and 4 experienced transient increases in thyroid-stimulating hormone and insulin, which normalized after stopping the medication and subsequent follow-up.

Children with Silver-Russell syndrome often present with short stature. Typical clinical manifestations and genetic testing assist in making a diagnosis. Treatment with recombinant human growth hormone can significantly improve the height of affected children, and there are no serious adverse reactions.