Evidence map›Paper›PMID 36157645›Full record

ArticleWorld journal of clinical cases2022

X-linked recessive Kallmann syndrome: A case report.

Ping Zhang, Jing-Yun Fu

Abstract readCase Reports
In one paragraph

Article in World journal of clinical cases, 2022. 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

2 authors.

Ping ZhangDivision of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Kunming 650031, Yunnan Province, China.
Jing-Yun FuDivision of Endocrinology, The First Affiliated Hospital of Kunming Medical University, Kunming 650031, Yunnan Province, China. fujy74@sina.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKallmann syndrome (KS), also known as hypogonadotropic hypogonadism (HH) or olfactory-gonadal dysplasia, is a genetic condition in which the primary symptom is a failure to begin puberty or a failure to fully complete it. It occurs in both males and females and has the additional symptoms of hypogonadism and almost invariably infertility. The condition has a low prevalence that is estimated to be 1 in 4000 for male HH cases overall and 1:50000 for KS. It is three to five times more common in males than females. Whether this is a true sex imbalance or a reflection of how difficult KS/HH is to diagnose correctly in males CASE SUMMARY: This article reports a 26-year-old male presenting with delayed puberty. The synthetic decapeptide luteinizing hormone-releasing hormone stimulation test showed that the secretion levels of follicle-stimulating hormone and luteinizing hormone were delayed. The eigengenes commonly associated with idiopathic HH (IHH) were screened, and an X-linked recessive (KAL-1) mutation was found. His gonadotropin and testosterone levels increased significantly after pulsatile gonadotropin-releasing hormone (GnRH) subcutaneous therapy by pump. A relevant literature review on the recent advances in the diagnosis and treatment of KS and genetic counseling was conducted.

conclusionKS is caused by a KAL-1 mutation that follows an X-linked recessive inheritance pattern. Pulsatile GnRH subcutaneous therapy by pump was effective in this patient.

Indexed as

Case reportDiagnosisGonadotropin-releasing hormoneHormone replacement therapyTreatmentX-linked recessive Kallmann syndrome

Identifiers

PMID36157645
PMCPMC9477064

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