Pediatric endocrinology

Self‐Reported Health Burden and Quality‐of‐Life–Related Concerns in Patients With Achondroplasia: A Survey From Türkiye

Clin Endocrinol (Oxf)Published Cross-sectional survey study

Authors' conclusion

Patients with achondroplasia face significant challenges in daily life, they require medical treatment and some supportive services to improve their quality of life.

Study context

Population
Patients with achondroplasia in Türkiye, aged 0–20 years, 50.7% male; questions directed to patients or their parents
Participants
140 patients
Outcome
Demographic and clinical characteristics, quality of life (QoL) losses and expectations
Methodological detailsComputer-Assisted Telephone Interviewing (CATI), Questionnaire prepared by a committee including clinicians and the president of the Achondroplasia and Families Association
  • Computer-Assisted Telephone Interviewing (CATI)
  • Questionnaire prepared by a committee including clinicians and the president of the Achondroplasia and Families Association

Main finding

As reported in the abstract

Diagnosed by obstetricians
76.5%
Received GH treatment
10%
At least one surgical procedure
55.7%
Limb lengthening surgery
23.6%
Sleep-disordered breathing (frequently/very frequently)
40%
Recurrent ear infections (frequently/very frequently)
32%
Frequent respiratory tract infections (frequently/very frequently)
28%

Observational data: associations, not effects.

Original publication

Self‐Reported Health Burden and Quality‐of‐Life–Related Concerns in Patients With Achondroplasia: A Survey From Türkiye. Clin Endocrinol (Oxf). Published 6 August 2026. doi:10.1111/cen.70190

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