Annals of pediatric endocrinology & metabolism · 2026
Final adult height in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
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Sung Juyoung, Kim Insung, Im Minji, Ahn Yoon Ji, Kim Myeongjin, Choi Minwhae, Chung Yoojin Lindsey, Moon JungEun, Suh Junghwan, Lim Han Hyuk, Ahn Moon Bae, Kim Chan Jong, Lee Hae Sang, Kang Eungu, Lee Young Ah, Lee Yun Jeong, Cho Sung Yoon
Аннотация
PURPOSE: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) can impair linear growth and reduce final adult height (FAH). However, long-term growth outcomes have not been well characterized in Asian populations. This study evaluated FAH and identified clinical and treatment-related factors associated with short stature and height gain in Korean patients with 21OHD.
METHODS: This retrospective multicenter cohort study included 119 patients with 21OHD (59 males, 60 females) who reached FAH. Logistic regression identified risk factors for short stature. The effect of gonadotropin-releasing hormone agonist (GnRHa) therapy was analyzed in a subgroup of 55 patients.
RESULTS: Mean FAH was 165.0 ± 7.9 cm (-1.68 ± 1.38 SDS) in males and 155.1 ± 6.9 cm (-1.25 ± 1.43 SDS) in females. Short stature was observed in 31.9% of patients. Patients with the non-classic phenotype had lower FAH than those with the salt-wasting form. Central precocious puberty (CPP) was associated with an increased risk of short stature (odds ratio [OR], 4.19; 95% confidence interval [CI], 1.19-14.73; p=0.03), whereas later year of birth (OR, 0.85; 95% CI, 0.78-0.92; p<0.001) and growth hormone therapy (OR, 0.26; 95% CI, 0.08-0.85; p=0.02) were protective. Among patients treated with GnRHa, FAH was greater than the predicted adult height at treatment initiation (-1.33 vs -1.66 SDS, p < 0.05).
CONCLUSION: Despite conventional treatment, FAH is significantly lower than the general population mean in Korean patients with 21OHD (-1.68 SDS in males and -1.25 SDS in females), particularly in those with CPP or delayed diagnosis. Early detection and adjunctive therapies may improve growth outcomes.
METHODS: This retrospective multicenter cohort study included 119 patients with 21OHD (59 males, 60 females) who reached FAH. Logistic regression identified risk factors for short stature. The effect of gonadotropin-releasing hormone agonist (GnRHa) therapy was analyzed in a subgroup of 55 patients.
RESULTS: Mean FAH was 165.0 ± 7.9 cm (-1.68 ± 1.38 SDS) in males and 155.1 ± 6.9 cm (-1.25 ± 1.43 SDS) in females. Short stature was observed in 31.9% of patients. Patients with the non-classic phenotype had lower FAH than those with the salt-wasting form. Central precocious puberty (CPP) was associated with an increased risk of short stature (odds ratio [OR], 4.19; 95% confidence interval [CI], 1.19-14.73; p=0.03), whereas later year of birth (OR, 0.85; 95% CI, 0.78-0.92; p<0.001) and growth hormone therapy (OR, 0.26; 95% CI, 0.08-0.85; p=0.02) were protective. Among patients treated with GnRHa, FAH was greater than the predicted adult height at treatment initiation (-1.33 vs -1.66 SDS, p < 0.05).
CONCLUSION: Despite conventional treatment, FAH is significantly lower than the general population mean in Korean patients with 21OHD (-1.68 SDS in males and -1.25 SDS in females), particularly in those with CPP or delayed diagnosis. Early detection and adjunctive therapies may improve growth outcomes.