Evidence map›Paper›PMID 36129002›Full record

ArticleWomen's health (London, England)

A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.

Li-Zhen Dai, Hong Ma, Jian-Fang Ke, Chen-Shi Lin, Yanling Huang, Yuan Tian, Danling Chen

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

Article in Women's health (London, England). 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

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

1 citing paper in PubMed.

  1. Article
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

7 authors.

Li-Zhen DaiDepartment of Endocrinology, The Third Clinical Medical College of Fujian Medical University, Xiamen, China.ORCID 0000-0001-6194-7984
Hong MaDepartment of Endocrinology, The Third Clinical Medical College of Fujian Medical University, Xiamen, China.
Jian-Fang KeDepartment of Endocrinology, The Third Clinical Medical College of Fujian Medical University, Xiamen, China.ORCID 0000-0001-8055-4086
Chen-Shi LinDepartment of Endocrinology, Zhongshan Hospital Xiamen University, Xiamen, China.ORCID 0000-0001-9412-8934
Yanling HuangDepartment of Endocrinology, The Third Clinical Medical College of Fujian Medical University, Xiamen, China.
Yuan TianDepartment of Endocrinology, Zhongshan Hospital Xiamen University, Xiamen, China.ORCID 0000-0001-8369-8085
Danling ChenDepartment of Endocrinology, Zhongshan Hospital Xiamen University, Xiamen, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Here, we reported a case of a 16-year-old Chinese female patient (46, XX) diagnosed as 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) in June 2018 and over 3 years follow-up outcomes; 17-OHD is a rare form of congenital adrenal hyperplasia. The patient presented with primary amenorrhea, underdeveloped secondary sexual characteristics, hypertension and hypokalemia. Hormonal findings revealed decreased estrogen and androgen, increased progesterone, low cortisol concentration and compensatory high adrenocorticotropic hormone level. Mutation analysis of the

Indexed as

LyasesSteroid 17-alpha-HydroxylaseAdolescentAdrenocorticotropic HormoneAndrogensAspartic AcidEstrogensFemaleFollow-Up StudiesHomozygoteHumansHydrocortisoneMixed Function OxygenasesPhenylalanineProgesteroneSequence DeletionAdrenocorticotropic HormoneAndrogensAspartic AcidEstrogensHydrocortisoneLyasesMixed Function OxygenasesPhenylalanineProgesteroneSerineSteroid 17-alpha-Hydroxylase17α-hydroxylase/1720-lyase deficiencycongenital adrenal hyperplasiaCYP17A1 gene mutationfollow-upprimary amenorrhea

Identifiers

PMID36129002
PMCPMC9502244

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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.