ArticleOrphanet journal of rare diseases2011
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
Article in Orphanet journal of rare diseases, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
103 citing papers in PubMed, 2 syntheses or guidelines pooled it, 192 citations in OpenAlex.
- Reversal of Congenital Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Timing of peripubertal steroid exposure predicts visuospatial cognition in men: Evidence from three samples.Hormones and behavior · 2020Pooled it
- Comparison of outcomes between pulsatile gonadotropin releasing hormone and combined gonadotropin therapy of spermatogenesis in patients with congenital hypogonadotropic hypogonadism.Reproductive biology and endocrinology : RB&E · 2025Trial
- Kisspeptin Responsiveness Signals Emergence of Reproductive Endocrine Activity: Implications for Human Puberty.The Journal of clinical endocrinology and metabolism · 2016Trial
- The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30-Year Experience at a Tertiary Paediatric Centre.Clinical endocrinology · 2026Article
- AKAP2/PKA complex coordinates primary ciliogenesis, ciliary trafficking and Shh signaling.Cell communication and signaling : CCS · 2026Article
- Reversible congenital hypogonadotropic hypogonadism: keys for clinical management.Archives of endocrinology and metabolism · 2026Review
- A bibliometric analysis of Kallmann syndrome: trends, hotspots, and future directions.Orphanet journal of rare diseases · 2026Article
- [Genetic variants analysis of 17 female patients with idiopathic hypogonadotropic hypogonadism].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2026Article
- From patients to partners: evaluating a co-designed website for congenital hypogonadotropic hypogonadism.Endocrine connections · 2026Article
- Kallmann Syndrome in a 30-Year-Old Female With Primary Infertility: A Case Report.Case reports in obstetrics and gynecology · 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
- Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.Orphanet journal of rare diseases · 2025Article
- Fractionation of sex differences in human cortical anatomy.bioRxiv : the preprint server for biology · 2025Article
- Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study.Human genetics · 2025Article
- Co-occurrence of a Mullerian anomaly and Kallmann syndrome: A case report.Case reports in women's health · 2025Article
- An Effective Outcome Despite Delayed Treatment Initiation in a Female With Kallmann Syndrome: A Case Report.Cureus · 2025Article
- Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.Endocrine connections · 2025Article
- A Current Perspective on Delayed Puberty and Its ManagementJournal of clinical research in pediatric endocrinology · 2024Review
43 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
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKallmann syndrome (KS), comprised of congenital hypogonadotropic hypogonadism (HH) and anosmia, is a clinically and genetically heterogeneous disorder. Its exact incidence is currently unknown, and a mutation in one of the identified KS genes has only been found in ~30% of the patients.
methodsHerein, we investigated epidemiological, clinical, and genetic features of KS in Finland.
resultsThe minimal incidence estimate of KS in Finland was 1:48 000, with clear difference between males (1:30 000) and females (1:125 000) (p = 0.02). The reproductive phenotype of 30 probands (25 men; 5 women) ranged from severe HH to partial puberty. Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11) in these 30 well-phenotyped probands revealed mutations in KAL1 (3 men) and FGFR1 (all 5 women vs. 4/25 men), but not in other genes.
conclusionsOur results suggest that Finnish KS men harbor mutations in gene(s) yet-to-be discovered with sex-dependent penetrance of the disease phenotype. In addition, some KS patients without CHD7 mutations display CHARGE-syndrome associated phenotypic features (e.g. ear or eye anomalies), possibly implying that, in addition to CHD7, there may be other genes associated with phenotypes ranging from KS to CHARGE.
Indexed as
Identifiers
What OpenQuestion holds
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.