Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Background/Purposes: Congenital adrenal hyperplasia attributable to 21-hydroxylase defi-ciency (21-OHD) is a disorder of adrenal steroidogenesis. Achievement of optimal growth by such patients is challenging. We evaluated the adult height of Taiwanese children with 21-OHD and the effect of a gonadotropin-releasing hormone analogue (GnRHa) in patients with central precocious puberty (CPP) complicating 21-OHD.Methods: Among 116 patients with 21-OHD in Taiwan, 90 who had attained adult height were subjected to an analysis of height outcomes. Nine with progressive CPP were treated with GnRHa and the effects of this therapy on adult height were further analyzed. Results: In the pre-screening era, the percentage of boys with 21-OHD was lower than ex-pected. Although neonatal screening can prevent mortality caused by adrenal crisis, some cases may be missed. The pooled mean adult height of the 78 patients treated with conven-tional therapy were-1.1 SD and-0.5 SD adjusting for the genetic potential. The disease fea-tures affecting height outcomes are the genetic height potential and in boys the simple virilizing type. Nine patients with CPP were treated with GnRHa in addition to conventional therapy; the mean adult height increased from the predicted-4.1 SD to-1.0 SD after 6.0 +/- 2.5 years of treatment. Conclusion: Patients with 21-OHD had poorer mean adult height. A high caregiver's index of suspicion is required for the early diagnosis of patients with 2 1-OHD missed on neonatal screening. Adjuvant therapy with GnRHa can improve the adult height of patients with CPP complicating 21-OHD.Copyright (c) 2022, Formosan Medical Association. Published by Elsevier Taiwan LLC. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

Automated summary

This study evaluated the adult height of Taiwanese children with congenital adrenal hyperplasia attributable to 21-hydroxylase deficiency (21-OHD) and the effect of a gonadotropin-releasing hormone analogue (GnRHa) in patients with central precocious puberty complicating 21-OHD. The study found that patients with 21-OHD had poorer mean adult height, and adjuvant therapy with GnRHa could improve the adult height of patients with CPP complicating 21-OHD.