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

Shinsuke Onuma, Tomoya Fukuoka, Yoko Miyoshi, Miho Fukui, Yoshinori Satomura, Kie Yasuda, Takeshi Kimura, Makiko Tachibana, Kazuhiko Bessho, Takehisa Yamamoto, Hiroyuki Tanaka, Noriyuki Katsumata, Maki Fukami, Tomonobu Hasegawa, Keiichi Ozono

研究成果: Article査読

抄録

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.

本文言語English
ページ(範囲)143-148
ページ数6
ジャーナルclinical pediatric endocrinology
30
3
DOI
出版ステータスPublished - 2021 7月

ASJC Scopus subject areas

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学

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