ArticleEndocrine2022
High incidence of hypertension-mediated organ damage in a series of Chinese patients with 17α-hydroxylase deficiency.
Article in Endocrine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- Multi-biomarker models based on the androgen backdoor pathway for diagnosing 17α-hydroxylase/17,20-lyase deficiency.Endocrine · 2026Article
- Clinical characteristics and mutation analysis of Chinese children with 17α-hydroxylase deficiency: a report on three cases.Translational pediatrics · 2026Article
- Adrenal causes of endocrine hypertension in childhood or adolescence.Journal of endocrinological investigation · 2025Review
- Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from ChinaJournal of clinical research in pediatric endocrinology · 2025Article
- Adrenal Insufficiency Associated Cardiomyopathy, From Molecule to Clinic: A Comprehensive Review.Health science reports · 2025Article
- Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase DeficiencyJournal of clinical research in pediatric endocrinology · 2025Review
- Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.Endocrine reviews · 2025Review
- 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.Endocrine · 2024Article
- A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach.Endocrinology, diabetes & metabolism case reports · 2023Article
- Article
- 17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.Clinical case reports · 2022Article
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11 authors at 2 institutions in 1 country.
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Abstract
objectiveTo analyze the prevalence of hypertension-mediated organ damage (HMOD) and its relationship with enzyme activity of mutant CYP17A1 and other risk factors in patients with 17α-hydroxylase/17,20-lyase deficiency (17-OHD).
methodsA total of 68 patients with 17-OHD were recruited in the Peking Union Medical College Hospital from 2003 to 2021. The incidence of hypertension and HMOD was respectively analyzed. CYP17A1 sequencing was performed and the enzyme activity of mutant CYP17A1 was determined by analyzing the characteristics of mutation itself and the functional data reported previously. A logistic regression model was employed to analyze the factors related to HMOD and the specific damaged organs in 17-OHD patients. RESULT(S): Sixty-five patients (95.6%) exhibited hypertension, 32 of whom were diagnosed with HMOD. c.985_987delTACinsAA (p.Y329KfsX418) (53.8%) and c.1459_1467del (p. del D487_F489) (11.4%) were the top two mutations, and no correlation was found between enzyme activity of mutant CYP17A1 and HMOD. The risk of HMOD increased by 32% for each additional year of hypertension duration, 10.2-fold for each one-grade increase in hypertension level, 2.3-fold for each grade of exacerbation of hypokalemia.
conclusionPatients with 17-OHD experience a high incidence of HMOD. There was no correlation between the HMOD occurrence and enzyme activity of mutant CYP17A1. Longer duration of hypertension, more severe hypertension, and hypokalemia were independent risk factors for the occurrence of HMOD in patients with 17-OHD.
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