ReviewEuropean journal of human genetics : EJHG2023
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism - a clinical perspective.
Review in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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
23 citing papers in PubMed, 27 citations in OpenAlex.
- The Spectrum of Congenital Hypogonadotropic Hypogonadism: A 30-Year Experience at a Tertiary Paediatric Centre.Clinical endocrinology · 2026Article
- 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
- Reversible congenital hypogonadotropic hypogonadism: keys for clinical management.Archives of endocrinology and metabolism · 2026Review
- Identification of a novel KISS1R (GPR54) gene variant (c.505+2T>G) in a patient with congenital hypogonadotropic hypogonadism: A case report and literature review.Experimental and therapeutic medicine · 2026Article
- Management of infertility in women with hypothalamic hypogonadotropic hypogonadism: an expert opinion.Reproductive biology and endocrinology : RB&E · 2026Review
- Gonadotropins in Mini-Puberty: Pathophysiological and Therapeutic Implications for Male Congenital Hypogonadism.Children (Basel, Switzerland) · 2026Review
- When Lifelong Anosmia Reveals Hypogonadism: A Case of Kallmann Syndrome with Primary Amenorrhea.International journal of women's health · 2026Article
- Case Report: HomozygousFrontiers in medicine · 2026Article
- Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism.Neuroendocrinology · 2026Article
- Clinical approach to the male with delayed puberty.Archives of endocrinology and metabolism · 2025Review
- Clinical and genetic characteristics of boys with congenital hypogonadotropic hypogonadism: a single-center experience.BMC pediatrics · 2025Article
- Sperm DNA methylation profiling in patients with Kallmann syndrome.Endocrine connections · 2025Article
- Altered glucose metabolism in default mode network and prefrontal circuit in patients with Kallmann syndrome.EJNMMI research · 2025Article
- De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome.Case reports in endocrinology · 2025Article
- Article
- Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism.The Journal of clinical endocrinology and metabolism · 2024Article
- Disorders of puberty and neurodevelopment: A shared etiology?Annals of the New York Academy of Sciences · 2024Review
- Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement.Endocrine reviews · 2024Review
- Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.Asian journal of andrology · 2024Article
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 1 country.
Funding
Abstract
Congenital hypogonadotropic hypogonadism (CHH) is a rare endocrine disorder that results in reproductive hormone deficiency and reduced potential for fertility in adult life. Discoveries of the genetic aetiology of CHH have advanced dramatically in the past 30 years, with currently over 40 genes recognised to cause or contribute to the development of this condition. The genetic complexity of CHH is further increased by the observation of di- and oligogenic, as well as classic monogenic, inheritance and incomplete penetrance. Very recently in the UK, a panel of 14 genes has been curated for the genetic diagnosis of CHH within the NHS Genomic Medicine Service programme. The aim of this review is to appraise the advantages and potential pitfalls of the use of a CHH panel in clinical endocrine diagnostics, and to consider the future avenues for developing this panel including the potential of whole exome or whole genome sequencing data analysis in this condition.
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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.