Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood

• Published in: Clinical Pediatric Endocrinology Vol. 30; no. 3; pp. 143 - 148
• Main Authors: Onuma, Shinsuke, Fukuoka, Tomoya, Miyoshi, Yoko, Fukui, Miho, Satomura, Yoshinori, Yasuda, Kie, Kimura, Takeshi, Tachibana, Makiko, Bessho, Kazuhiko, Yamamoto, Takehisa, Tanaka, Hiroyuki, Katsumata, Noriyuki, Fukami, Maki, Hasegawa, Tomonobu, Ozono, Keiichi
• Format: Journal Article
• Language: English
• Published: The Japanese Society for Pediatric Endocrinology 01.01.2021
• Subjects: 21-hydroxylase deficiency; Case Report; congenital adrenal hyperplasia; neonatal screening; premature birth; secondary central precocious puberty
• ISSN: 0918-5739; 1347-7358
• DOI: 10.1297/cpe.30.143

Herein, we report two girls with a neonatal screening (NS)-negative 21-hydroxylase deficiency (21-OHD) requiring treatment with hydrocortisone due to virilization that developed in late childhood. Patient 1 was born prematurely on the 30th gestational week with normal external genitalia at birth. She passed the NS for 21-OHD. At 6 yr of age, she was referred to a hospital for evaluation of premature pubarche and clitoromegaly. Her diagnosis was central precocious puberty, and GnRH agonist was initiated. However, her symptoms did not improve despite treatment for over 4 years. She was then referred to our hospital where she was diagnosed with 21-OHD. Although she was started on hydrocortisone therapy, her adult height reached only 140 cm (−3.4 SD). Patient 2 was delivered at 37 weeks of gestation and passed the NS for 21-OHD. She was referred to a hospital because of premature pubarche at the age of 6 yr. She was diagnosed with 21-OHD, and hydrocortisone replacement therapy was initiated. Her present height at 13 yr of age is 148 cm (−1.3 SD). These cases reminded us that the possibility of 21-OHD should be considered when patients show premature pubarche or precocious puberty, even if they passed the NS test for 21-OHD.