Exp Clin Endocrinol Diabetes 2017; 125(03): 196-201
DOI: 10.1055/s-0042-123037
Article
© Georg Thieme Verlag KG Stuttgart · New York

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults

Ja Hye. Kim
1   Department of Pediatrics, Hanyang University College of Medicine, Hanyang University Guri Hospital, Guri, Korea
,
Jin-Ho Choi
2   Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
,
Eungu Kang
2   Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
,
Yoon-Myung Kim
2   Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
,
Beom Hee Lee
2   Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
,
Han-Wook Yoo
2   Department of Pediatrics, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, Seoul, Korea
› Author Affiliations
Further Information

Publication History

received   21 July 2016
first decision 21 July 2016

accepted    25 November 2016

Publication Date:
10 January 2017 (online)

Abstract

Background The management of congenital adrenal hyperplasia (CAH) from pediatric to adulthood is challenging to achieve optimal growth and puberty. This study characterizes the clinical outcomes of 21-hydroxylase deficiency.

Methods 53 CAH patients were included (33 females, 15 and 18 patients with the salt-wasting [SW] and simple-virilizing [SV] forms; and 20 males, 16 and 4 patients with the SW and SV forms). We reviewed growth parameters, pubertal status, and long-term morbidities.

Results In females, the age at pubertal onset and pubarche was 9.6±0.9 and 10.5±1.9 years, respectively, which was significantly earlier in the SV form (p=0.005). In males, the ages at pubertal onset and pubarche were 10.1±2.0 and 10.7±2.5 years, respectively, which were not significantly different between the groups. Forty patients reached adult height: −2.1±1.6 SDS in males and −1.5±1.1 SDS in females. Obesity and overweight was significantly common in adult patients. Testicular adrenal rest tumors were found in 4 SW males. 5 patients had adrenal tumor including adenoma, adenocarcinoma, or myelolipoma.

Conclusions Reduced adult height and obesity/overweight are prevalent in adulthood. Adolescents and adults with 21-hydroxylase deficiency should be monitored for long-term consequences.

 
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