Five common diseases that cause dwarfism —- idiopathic dwarfism (ISS)

Case: Jia Jia was diagnosed as idiopathic short stature (ISS) when her height was lower than the mean height of -2SD in children of the same race, sex and age, with a slightly slower growth rate and slightly lagging bone age, no obvious chronic organic disease, a peak growth hormone excitation test of 12ng/ml, and normal chromosomal examination and pituitary nuclear magnetic examination.

ISS Introduction ISS is defined as height below -2 SD below the normal average height of children of the same race, sex, and age without systemic, endocrine, or nutritional diseases or chromosomal abnormalities, especially in children with ISS whose birth weight and growth hormone levels are normal.

ISS can be caused by a variety of currently unknown etiologies and accounts for 60-80% of all children with short stature, including delayed somatic puberty and familial short stature. Evidence suggests that secretion of the growth hormone-releasing hormone-insulin-like growth factor-1 axis, defects in the messaging pathway and mutations in related genes are closely associated with the disease.

How it is treated In July 2003 the US Food and Drug Administration (FDA) approved recombinant human growth hormone (rhGH) for the treatment of ISS. The recommended therapeutic dose is 0.35 mg/kg/week administered subcutaneously at bedtime every night for at least 6 months, preferably 2 years. The efficacy of rhGH treatment needs to be judged periodically. Indicators of effective rhGH treatment in the first year: increase in height SDS by more than 0.3-0.5 and growth rate by >75px/year; if the efficacy in the first year is poor, the drug should be discontinued as soon as possible if the growth rate is still unsatisfactory while ensuring treatment compliance.

Children with prepubertal ISS can be treated with GnRH analog (GnRHa) combined with low-dose recombinant human growth hormone.

Growth indicators, biochemical indicators, clinical physical examination and psychological status assessment should be integrated in ISS treatment, and regular follow-up follow-ups should be conducted.