Evidence map›Paper›PMID 41141657›Full record

ArticleTranslational pediatrics2025

17α-hydroxylase deficiency with a novel

Jin B Li, Ya Xiao, Shu Q Jiang, Xiang Y Luo, Hong R Zhang, Jun Sun, Wen H Shi, Ying Yang, Wei Wang

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Translational pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Jin B LiDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Ya XiaoDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Shu Q JiangDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Xiang Y LuoDepartment of Pediatric Urology, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Hong R ZhangDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Jun SunDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Wen H ShiDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Ying YangDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Wei WangDepartment of Pediatric Endocrinology, Genetics and Metabolism, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: 17α-hydroxylase deficiency (17-OHD) represents the rarest subtype of congenital adrenal hyperplasia (CAH), characterized by impaired cortisol and sex hormone synthesis due to Case Description: A 10-year-old girl presented with recurrent hypokalemia, hypertension, and respiratory tract infections. Hormonal testing revealed pathognomonic features of 17-OHD, including elevated progesterone, undetectable cortisol, suppressed renin activity, elevated mineralocorticoid precursors, and reduced sex hormones. Genetic analysis confirmed Conclusions: 17-OHD can present with recurrent hypokalemia, refractory hypertension, and respiratory tract infections in childhood, which are prone to misdiagnosis. Early hormonal testing (such as elevated progesterone and decreased cortisol) and

Indexed as

17α-hydroxylase deficiency (17-OHD)case reportchildgenetic diagnosisnovel CYP17A1 mutation

Identifiers

PMID41141657
PMCPMC12552174

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.