Families' experiences with idiopathic short stature in the United States: A qualitative study of diagnostic pathways, care experiences, and psychosocial impacts.

BACKGROUND

Idiopathic short stature (ISS) is height > 2 SD below the mean for age and sex without an identifiable medical cause. In the United States, growth hormone (GH) is approved for ISS, but responses vary, long-term safety data are limited, and psychosocial effects are understudied.

PURPOSE: To describe diagnostic pathways, treatment experiences, psychosocial impacts, and support needs among U.S. children with ISS and their caregivers.

METHODS

Semi-structured interviews were conducted with 22 participants (10 children/adolescents and 12 parents) recruited through the MAGIC Foundation. Interviews were conducted virtually, audio-recorded, transcribed verbatim, de-identified, and thematically analyzed using a qualitative descriptive approach and codebook thematic analysis with inductive line-by-line coding.

RESULTS

Families described variable and often delayed diagnostic pathways, frequently due to provider uncertainty or dismissal of growth concerns. Nearly all children had used GH therapy and reported benefits in height and self-confidence; however, families highlighted challenges related to daily injections, variable effectiveness, and insurance barriers. Short stature was associated with substantial psychosocial burden, particularly among boys in this sample, including bullying, stigma, and restrictions in daily activities. While families relied on healthcare providers for medical guidance, they often turned to online communities for practical advice and emotional support, underscoring unmet needs for structured education and credible resources.

CONCLUSIONS

Children with ISS and their families experience diagnostic delays, treatment burdens, and psychosocial challenges that extend beyond physical growth. Although GH therapy provides modest benefits, families expressed a desire for more effective and less burdensome treatments. Pediatric nurses can support earlier recognition and referral, provide structured education, advocate for equitable access, and integrate psychosocial care into routine management.