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

Autor: Onuma S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Fukuoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Miyoshi Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; Department of Health and Nutrition, Faculty of Health and Nutrition, Osaka Shoin Women's University, Osaka, Japan., Fukui M; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Satomura Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Yasuda K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Kimura T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Tachibana M; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Bessho K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Yamamoto T; Department of Pediatrics, Minoh City Hospital, Osaka, Japan., Tanaka H; Department of Pediatrics, Okayama Saiseikai General Hospital, Okayama, Japan., Katsumata N; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Fukami M; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan., Hasegawa T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.
Jazyk: angličtina
Zdroj: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2021; Vol. 30 (3), pp. 143-148. Date of Electronic Publication: 2021 Jul 10.
DOI: 10.1297/cpe.30.143
Abstrakt: 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.
Competing Interests: Tomonobu Hasegawa discloses the following financial relationships: receipt of scholarship donations from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd. Keiichi Ozono discloses the following financial relationships: receipt of lecture fees from Kyowa Kirin Co., Ltd., Alexion Pharmaceuticals, Inc., and Novo Nordisk Pharma Ltd.
(2021©The Japanese Society for Pediatric Endocrinology.)
Databáze: MEDLINE
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