ArticleFertility and sterility2011
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Article in Fertility and sterility, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed, 106 citations in OpenAlex.
- Genetic landscape of a neonatal hypogonadotropic hypogonadism series: Novel variants and phenotypic spectrum.Journal of neuroendocrinology · 2026Article
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- Novel and recurrent genetic variants associated with male and female infertility.Journal of applied genetics · 2025Article
- Intrafamilial Phenotypic Variability of theGenes · 2025Review
- Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.Frontiers in endocrinology · 2024Review
- Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.International journal of molecular sciences · 2023Review
- Article
- Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.International journal of molecular sciences · 2023Article
- Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.European journal of human genetics : EJHG · 2023Review
- Review of human genetic and clinical studies directly relevant to GnRH signalling.Journal of neuroendocrinology · 2022Review
- Identification and Functional Characterization of a Novel Variant in theInternational journal of endocrinology · 2022Article
- New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.Archives of medical science : AMS · 2022Article
- Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.Molecular genetics & genomic medicine · 2021Article
- Article
- One4TwoGenes · 2021Observational
- Oligogenic Inheritance Underlying Incomplete Penetrance ofFrontiers in genetics · 2021Article
- Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.Frontiers in pediatrics · 2021Article
- External and Genetic Conditions Determining Male Infertility.International journal of molecular sciences · 2020Review
- Article
- Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Metabolism: clinical and experimental · 2018Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveTo determine the prevalence of digenic mutations in patients with idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS).
designMolecular analysis of DNA in IHH/KS patients.
settingAcademic medical center. PATIENT(S): Twenty-four IHH/KS patients with a known mutation (group 1) and 24 IHH/KS patients with no known mutation (group 2). INTERVENTION(S): DNA from IHH/KS patients was subjected to polymerase chain reaction-based DNA sequencing of the 13 most common genes (KAL1, GNRHR, FGFR1, KISS1R, TAC3, TACR3, FGF8, PROKR2, PROK2, CHD7, NELF, GNRH1, and WDR11). MAIN OUTCOME MEASURE(S): The identification of mutations absent in ≥188 ethnically matched controls. Both SIFT (sorting intolerant from tolerant) and conservation among orthologs provided supportive evidence for pathologic roles. RESULT(S): In group 1, 6 (25%) of 24 IHH/KS patients had a heterozygous mutation in a second gene, and in group 2, 13 (54.2%) of 24 had a mutation in at least one gene, but none had digenic mutations. In group 2, 7 (29.2%) of 24 had a mutation considered sufficient to cause the phenotype. CONCLUSION(S): When the 13 most common IHH/KS genes are studied, the overall prevalence of digenic gene mutations in IHH/KS was 12.5%. In addition, approximately 30% of patients without a known mutation had a mutation in a single gene. With the current state of knowledge, these findings suggest that most IHH/KS patients have a monogenic etiology.
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