Evidence map›Paper›PMID 34563184›Full record

ArticleBMC endocrine disorders2021

A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.

Weiwei Xu, Weibin Zhou, Haiyang Lin, Dan Ye, Guoping Chen, Fengqin Dong, Jianguo Shen

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC endocrine disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact, top 85% of its field
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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. A Novel HemizygousCase reports in endocrinology · 2026
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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 at 3 institutions in 1 country.

Weiwei XuDepartment of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Weibin ZhouDepartment of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Haiyang LinDepartment of Endocrinology, the Affiliated Wenling Hospital, Wenzhou Medical University, #333, S Chuan'an Road, Wenling, Zhejiang, 317500, China.
Dan YeDepartment of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Guoping ChenDepartment of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Fengqin DongDepartment of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Jianguo ShenDepartment of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China. jgshen@zju.edu.cn.ORCID http://orcid.org/0000-0003-2665-3395
Zhejiang University · CNFirst Affiliated Hospital Zhejiang University · CNWenzhou Medical University · CN

Funding

Young Scientists Fund 81701365Zhejiang Province Public Welfare Technology Application Research Project 2018KY363
6 · The paper itself

Abstract

backgroundVariants of chromodomain helicase DNA binding protein 7 (CHD7) gene are commonly associated with Kallmann syndrome (KS) and account for 5-6% of idiopathic hypogonadotropic hypogonadism (IHH) cases. Here we report a novel mutation of CHD7 gene in a patient with KS, which may contribute to the better understanding of KS. CASE PRESENTATION: A 29-year-old male patient with KS and a chief complaint of delayed puberty for 13 years (Tanner B Stage< 4) was admitted to the Department of Endocrinology of the First Affiliated Hospital of Zhejiang University (Hangzhou, China) in September 2019. Dual-energy X-ray absorptiometry (DEXA) showed low bone density in both lumbar spine (L1 ~ L5 mean Z-score - 3.0) and femoral neck (Z-score - 2.7). Dynamic contrast-enhanced magnetic resonance imaging (MRI) of pituitary and contrast-enhanced computed tomography (CT) showed no abnormal findings. Ophthalmological evaluation showed that his both eyes showed exotropia, and no sight loss was noted. Heterozygous c.1619G > T mutation of TCD7 gene (p.G4856V) was detected, whereas none of his family members had this mutation. Human chorionic gonadotropin (HCG) and human menopausal gonadotropin (HMG) were injected for three times/week to treat idiopathic hypogonadotropic hypogonadism (IHH). After several months of therapy, the patient's health condition improved. His testicles became larger, and his secondary sexual characteristics improved after treatment.

conclusionExploration of the novel splice-site mutation of CHD7 may further our current understanding of KS.

Indexed as

Mutation, MissenseAdultChinaDNA-Binding ProteinsDNA HelicasesDNA Mutational AnalysisHeterozygoteHumansHypogonadismKallmann SyndromeMagnetic Resonance ImagingMalePolymorphism, Single NucleotidePuberty, DelayedTomography, X-Ray ComputedCHD7 protein, humanDNA-Binding ProteinsDNA HelicasesCase reportCHD7 geneHeterozygous mutationIdiopathic hypogonadotropic hypogonadismKallmann syndrome

Identifiers

PMID34563184
PMCPMC8465769
OpenAlexW3202570935

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Registered trials

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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.