ReviewMetabolism: clinical and experimental2018
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Review in Metabolism: clinical and experimental, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 5 of them syntheses that pooled 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
92 citing papers in PubMed, 5 syntheses or guidelines pooled it, 185 citations in OpenAlex.
- Pooled it
- A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.Reproduction (Cambridge, England) · 2022Pooled it
- [Hormonal influence on hearing].HNO · 2021Pooled it
- A systematic-review of olfactory deficits in neurodevelopmental disorders: From mouse to human.Neuroscience and biobehavioral reviews · 2021Pooled it
- Assisted reproductive techniques with congenital hypogonadotropic hypogonadism patients: a systematic review and meta-analysis.BMC endocrine disorders · 2018Pooled it
- Altered spontaneous brain activity is associated with cognitive impairment in patients with Kallmann syndrome.Reproductive biology and endocrinology : RB&E · 2026Article
- Novel KISS1 Gene Mutation Leading to Male Hypogonadotropic Hypogonadism.Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association · 2026Article
- [Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene].Problemy endokrinologii · 2026Article
- Identification and prenatal diagnosis of a novel likely pathogenic ANOS1 variant in a large Chinese Kallmann syndrome family.Frontiers in genetics · 2026Article
- Genetic and epigenetic insights into non-obstructive azoospermia: mechanisms, biomarkers, and clinical perspectives.Reproductive biology and endocrinology : RB&E · 2025Review
- Association of self-stigma, impulsivity, and insomnia with anxiety and depression in patients with Kallmann syndrome.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2025Article
- KAL suppresses cholangiocarcinoma growth via downregulating miR-21 and modulating the PTEN/AKT signaling pathway.Scientific reports · 2025Article
- A familial case of Kallmann syndrome: novel variants in ANOS1 and GNRHR genes.Archives of endocrinology and metabolism · 2025Article
- Congenital melanocytic nevi in Bardet-Biedl syndrome.Orphanet journal of rare diseases · 2025Article
- Novel compound heterozygous NDNF variants in congenital hypogonadotropic hypogonadism: insights into genotype-phenotype correlation and infertility.Molecular biology reports · 2025Article
- PROKR2 mutations and SPRY4 variants with uncertain significance in a Kallmann syndrome family: Incomplete penetrance.Global medical genetics · 2025Article
- XYGO: proposing a new holistic measure of gender identity and sexual orientation.Nature reviews. Urology · 2025Review
- Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.International journal of molecular sciences · 2025Article
- Luteinizing Hormone Regulates Testosterone Production, Leydig Cell Proliferation, Differentiation, and Circadian Rhythm During Spermatogenesis.International journal of molecular sciences · 2025Review
- Involvement of a Novel Variant ofInternational journal of molecular sciences · 2025Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 2 countries.
Funding
Abstract
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency (IGD) IGD is a genetically and clinically heterogeneous disorder. Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD genes are shown to interact with each other in an oligogenic manner. In addition, while the genes involved in the pathogenesis of IGD act on either neurodevelopmental or neuroendocrine pathways, a subset of genes are involved in both pathways, acting as "overlap genes". Thus, some IGD genes play the role of the modifier genes or "second hits", providing an explanation for incomplete penetrance and variable expressivity associated with some IGD mutations. The clinical spectrum of IGD includes a variety of disorders including Kallmann Syndrome (KS), i.e. hypogonadotropic hypogonadism with anosmia, and its normosmic variation normosmic idiopathic hypogonadotropic hypogonadism (nIHH), which represent the most severe aspects of the disorder. Apart from these disorders, there are also "milder" and more common reproductive diseases associated with IGD, including hypothalamic amenorrhea (HA), constitutional delay of puberty (CDP) and adult-onset hypogonadotropic hypogonadism (AHH). Interestingly, neurodeveloplmental genes are associated with the KS form of IGD, due to the topographical link between the GnRH neurons and the olfactory placode. On the other hand, neuroendocrine genes are mostly linked to nIHH. However, a great deal of clinical and genetic overlap characterizes the spectrum of the IGD disorders. IGD is also characterized by a wide variety of non-reproductive features, including midline facial defects such as cleft lip and/or palate, renal agenesis, short metacarpals and other bone abnormalities, hearing loss, synkinesia, eye movement abnormalities, poor balance due to cerebellar ataxia, etc. Therefore, genetic screening should be offered in patients with IGD, as it can provide valuable information for genetic counseling and further understanding of IGD.
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Registered trials
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.