Clinical features of non-classical 21-hydroxylase deficiency after normal newborn mass screening

Pediatr Int. 2023 Jan-Dec;65(1):e15674. doi: 10.1111/ped.15674.

Authors

Funa Takahashi¹, Shuhei Adachi², Nodoka Sakurai¹, Toshihiko Mori¹, Kaori Fujikura³, Takeshi Usui^{4

5}, Tomonobu Hasegawa⁶

Affiliations

¹ Department of Pediatrics, NTT EAST Medical Center Sapporo, Sapporo, Japan.
² Department of Pediatrics, Sapporo Medical University School of Medicine, Sapporo, Japan.
³ Sapporo City Institute of Public Health, Sapporo, Japan.
⁴ Department of Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan.
⁵ Shizuoka Graduate University of Public Health, Shizuoka, Japan.
⁶ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

PMID: 38009625
DOI: 10.1111/ped.15674

No abstract available

Keywords: 21 hydroxylase deficiency; adrenal hyperplasia; congenital; mass screening; non-classical congenital adrenal hyperplasia.

MeSH terms

Adrenal Hyperplasia, Congenital* / diagnosis
Humans
Infant, Newborn
Mass Screening
Neonatal Screening

Supplementary concepts

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency