Evidence map›Paper›PMID 41978403›Full record

ArticleBeijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences2026

[Genetic variants analysis of 17 female patients with idiopathic hypogonadotropic hypogonadism].

Qiqi Chen, Haining Wang, Ye Liu, Xu Zhi

Abstract readEnglish Abstract
PubMed Full text at PMC
In one paragraph

Article in Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

4 authors.

Qiqi ChenDepartment of Obstetrics and Gynecology, Center for Reproductive Medicine, Peking University Third Hospital; State Key Laboratory of Female Fertility Promotion; National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital); Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China.
Haining WangDepartment of Endocrinology and Metabolism, Peking University Third Hospital, Beijing 100191, China.
Ye LiuDepartment of Endocrinology and Metabolism, Peking University Third Hospital, Beijing 100191, China.
Xu ZhiDepartment of Obstetrics and Gynecology, Center for Reproductive Medicine, Peking University Third Hospital; State Key Laboratory of Female Fertility Promotion; National Clinical Research Center for Obstetrics and Gynecology (Peking University Third Hospital); Key Laboratory of Assisted Reproduction (Peking University), Ministry of Education; Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Beijing 100191, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo analyze the clinical phenotype characteristics and genetic testing data of idiopathic hypogonadotropic hypogonadism (IHH) female patients, aiming to improve the understanding of genetic etiology and inheritance patterns among female patients.

methodsThis study recruited twenty-one female patients and their clinical data were collected and analyzed. Based on the olfaction function, the patients were divided into normosmic IHH group and Kallmann syndrome (KS) group. Whole exome sequencing and Sanger sequencing were performed to screen for underlying genetic etiology including genetic variants of known pathogenic genes and PLEXIN pathway genes. Alphafold2 was used for mutant protein structure prediction of

resultsNormosmic IHH patients and KS patients had no difference in baseline clinical data. Among the 21 recruited patients, 17 patients and their immediate family members' peripheral blood was collected for sequencing, and four patients were found carrying pathogenic variants involving

conclusionFemale IHH patients have complex genetic etiology and polygenic inheri-tance mode. Both hereditary and sporadic patients may have various degrees of genetic inheritance risk. The missense variant

Indexed as

HypogonadismAdolescentAdultExome SequencingFemaleHumansKallmann SyndromeMutation, MissensePhenotypeReceptor, Fibroblast Growth Factor, Type 1Receptors, G-Protein-CoupledReceptors, PeptideYoung AdultFGFR1 protein, humanPROKR2 protein, humanReceptor, Fibroblast Growth Factor, Type 1Receptors, G-Protein-CoupledReceptors, PeptideHypogonadismKallmann syndromePLXNA1Whole exome sequencing

Identifiers

PMID41978403
PMCPMC13077325

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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.