Reply to Letter by Kim Regarding Article, "A Patient with Partial 17α-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma"
Patient with Partial 17-Hydroxylase Deficiency Initially Diagnosed with Asherman Syndrome and Pheochromocytoma"We sincerely appreciate Dr. Kim for the thoughtful comments and for sharing an additional instructive case of 17-hydroxylase deficiency (17OHD). 1)s highlighted, misdiagnosis and delayed diagnosis are indeed common in patients with 17OHD, often leading to inappropriate management and progression of hypertension-mediated organ damage.The presented case of a patient who developed end-stage renal disease due to long-standing untreated hypertension underscores the severe consequences of delayed recognition. 2)e fully agree that congenital adrenal hyperplasia due to 17OHD should be considered in the differential diagnosis of adolescents and young women presenting with hypertension and abnormal sexual development.As we emphasized in our editorial, 3) awareness of this rare but important cause of secondary hypertension is crucial to avoid misdiagnosis as essential hypertension, pheochromocytoma, or other conditions.We thank Dr. Kim for reinforcing these important messages and for contributing to raising clinical awareness.We hope that continued case sharing will help clini-cians to suspect and diagnose 17OHD earlier, leading to improved outcomes.
Authors
- Katsuhito Fujiu (ORCID: https://orcid.org/0000-0002-1889-9291)
- Atsushi Kobayashi
Institutions
- Integrative Medicine Institute (US)
- The University of Tokyo (JP)
Publication Details
- Journal
- International Heart Journal
- Published
- 2025-11-28
- DOI
- https://doi.org/10.1536/ihj.25-560
- Primary Topic
- Sexual Differentiation and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00