46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review

Individuals with the 46,XY karyotype and 17 alpha-hydroxylase/17,20 lyase deficiency (17OHD) may develop disorders/differences of sex development (DSD) accompanied by delayed puberty or primary amenorrhea. Glucocorticoid replacement is required to normalize hypertension in 17OHD, which highlights th...

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Bibliografische Detailangaben

Hauptverfasser:	Sayaka Kawashima, Hirohito Shima, Yohei Satake, Naomi Shiga, Masahito Tachibana, Junko Kanno, Atsuo Kikuchi
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	The Japan Endocrine Society 2025-11-01
Schriftenreihe:	Endocrine Journal
Schlagworte:	17 alpha-hydroxylase/17,20 lyase deficiency (17ohd) congenital adrenal hyperplasia breast development disorders/differences of sex development (dsd)
Online-Zugang:	https://www.jstage.jst.go.jp/article/endocrj/72/11/72_EJ24-0715/_html/-char/en
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