Early diagnosis essential to improving outcomes in rare diseases affecting growth
The age at diagnosis for common congenital endocrine diseases affecting growth and development varies greatly according to disease type, according to a study.
In this observational cohort study, 4379 patients with well-defined chronic congenital endocrine diseases-non-acquired isolated growth hormone deficiency (IGHD), isolated congenital hypogonadotropic hypogonadism (ICHH), ectopic neurohypophysis (NH), Turner syndrome (TS), McCune-Albright syndrome (MAS), complete androgen insensitivity syndrome (CAIS) and gonadal dysgenesis (GD) were evaluated.
The median age at diagnosis was depended on the disease.
-Patients with GD were diagnosed during the first year of life.
– Patients with ectopic NH and MAS, were diagnosed before the age of 5 years.
– Patients with IGHD, TS, and CAIS were diagnosed between 8-10 years, although 11% of patients with TS were diagnosed antenatally.
-Patients with ICHH were diagnosed at 17.4 years.
Overall, 1/3 of patients were diagnosed before they were 5 years old. Adulthood diagnosis occurred in 22% of CAIS patients, 11.6% of TS, 8.8% for GD, 0.8% for ectopic NH, and 0.4% for IGHD.
The majority of IGHD, ectopic NH, ICHH, and GD diagnoses were in males.
Reference Kallali W, Messiaen C, Saïdi R, et al. Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases. Orphanet J Rare Dis. 2021;16(1):469. doi: 10.1186/s13023-021-02099-3. PMID: 34736502.