ArticleMolecular genetics & genomic medicine2020
CHD7 missense variants and clinical characteristics of Chinese males with infertility.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 6 citations in OpenAlex.
- Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.Human reproduction open · 2025Article
- Article
- Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism.Translational andrology and urology · 2023Article
- A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rareClinical case reports · 2023Article
- Novel Insights into circRNA Saga Coming from Spermatozoa and Epididymis of HFD Mice.International journal of molecular sciences · 2023Article
- CHD7 missense variants and clinical characteristics of Chinese males with infertility.Molecular genetics & genomic medicine · 2020Article
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7 authors at 1 institution in 1 country.
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Abstract
backgroundIsolated hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare genetic diseases that cause male infertility. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is commonly associated with KS and IHH. We speculated that CHD7 variants may be associated with male infertility.
methodsTwo hundred males with azoospermia and 120 with oligozoospermia were recruited. The patients underwent clinical examination and reproductive hormone testing. A panel of genes including CHD7 and others related to spermatogenic failure was sequenced by targeted-gene exome sequencing.
resultsThree patients with severe oligozoospermia had CHD7 variants (a detection rate of 0.94% (3/320)). After prediction software analysis, two of the variants c.3464G>A (p.R1155H) and c.4516G>A (p.G1506S) were predicted to be likely pathogenic. Although predicted to be benign, the variants of c.2824A>G (p.T942A) located in the chromodomain 2 could not be excluded as disease causing. The patients with variants had small testicular volumes. In particular, the testes of the patient with a p.G1506S variant varied in size (left, 8 ml; right, 4.5 ml). Two patients (patients 31 and 120) had low E2 levels and two (patients 83 and 120) had low T levels. Ultimately, these variants were classified as "variants of unknown significant" that may be associated with male infertility.
conclusionsThere may be a relationship between the CHD7 gene missense variants and male infertility. These variants are easier to find in patients with azoospermia and severe oligospermia whose testosterone levels are decreased.
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