Two girls with a neonatal screening-negative 21-hydroxylase deficiency requiring treatment with hydrocortisone for virilization in late childhood.
21-hydroxylase deficiency
congenital adrenal hyperplasia
neonatal screening
premature birth
secondary central precocious puberty
Journal
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
ISSN: 0918-5739
Titre abrégé: Clin Pediatr Endocrinol
Pays: Japan
ID NLM: 9433330
Informations de publication
Date de publication:
2021
2021
Historique:
received:
07
02
2021
accepted:
20
04
2021
entrez:
21
7
2021
pubmed:
22
7
2021
medline:
22
7
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34285457
doi: 10.1297/cpe.30.143
pii: 2021-0013
pmc: PMC8267553
doi:
Types de publication
Case Reports
Langues
eng
Pagination
143-148Informations de copyright
2021©The Japanese Society for Pediatric Endocrinology.
Déclaration de conflit d'intérêts
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.
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