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Article

Coproporphyrinogen Oxidase Deficiency Causes Primary Adrenal Insufficiency and 46,XY DSD.

The Journal of clinical endocrinology and metabolism - 18 Dec 2025

Honda Misa, Narumi Satoshi, Hasegawa Kosei, Goto Yoshimitsu, Kawashima Yusuke, Ohara Osamu, Fukuzawa Ryuji, Ishii Tomohiro, Hasegawa Tomonobu

Abstract excerpt

CONTEXT: Primary adrenal insufficiency (PAI) is a rare, life-threatening condition, and at times is associated with differences of sexual differentiation (DSD). Cytochrome P450 enzymes, which are essential for steroidogenesis in adrenals and gonads, have heme in their active center. CPOX encodes an enzyme coproporphyrinogen oxidase (CPOX) that is involved in the synthesis of heme. OBJECTIVE: This study aims to...

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Identifiers

PMID: 40481674
DOI: 10.1210/clinem/dgaf329

Genes

CPOX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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