Evidence map›Paper›PMID 38599871›Full record

ArticleInternal medicine (Tokyo, Japan)2024

17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.

Akira Ikeya, Miho Yamashita, Keisuke Kakizawa, Yuto Kawauchi, Akio Matsushita, Yasuko Fujisawa, Tsutomu Ogata, Shigekazu Sasaki

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

Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. Review
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

8 authors.

Akira Ikeya2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
Miho YamashitaInternational Center, Hamamatsu University School of Medicine, Japan.
Keisuke Kakizawa2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
Yuto Kawauchi2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
Akio Matsushita2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.
Yasuko FujisawaDepartment of Pediatrics, Hamamatsu University School of Medicine, Japan.
Tsutomu OgataDepartment of Pediatrics, Hamamatsu University School of Medicine, Japan.
Shigekazu Sasaki2nd Department of Internal Medicine, Hamamatsu University School of Medicine, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

17α-hydroxylase deficiency is a type of congenital adrenocortical hyperplasia that is typically diagnosed in childhood or adolescence. It manifests as hypertension with gonadal dysfunction as the primary symptom. We herein report 17α-hydroxylase/17,20-lyase deficiency (17OHD) diagnosed at the age of 45 years. The patient presented with hypertension, irregular menstruation, and hyperaldosteronism. The clinical manifestations of 17OHD vary based on the specific variant pattern of CYP17A1. In this case, the variant was c.157_159 TCC del p. Phe53del, which has been frequently reported in Japan. The enzymatic deficiency due to this variant is partial, leading to a delay in making a correct diagnosis.

Indexed as

Adrenal Hyperplasia, CongenitalHyperaldosteronismSteroid 17-alpha-HydroxylaseFemaleHumansMiddle AgedCYP17A1 protein, humanSteroid 17-alpha-Hydroxylase17α-hydroxylase/17,20-lyase deficiencycongenital adrenal hyperplasia (CAH)CYP17hyperaldosteronismhypertensionhyporenin

Identifiers

PMID38599871
PMCPMC11637798

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