ReviewPituitary2007
Genetic insights into human isolated gonadotropin deficiency.
Review in Pituitary, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 67 citations in OpenAlex.
- Congenital Hypogonadotropic Hypogonadism With Novel Pathogenic Variants in FGFR1 and GNRHR.JCEM case reports · 2025Article
- Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.Human genetics · 2021Review
- Sex-Dimorphic Behavioral Alterations and Altered Neurogenesis in U12 Intron Splicing-DefectiveInternational journal of molecular sciences · 2019Article
- SMAD3 Regulates Follicle-stimulating Hormone Synthesis by Pituitary Gonadotrope CellsThe Journal of biological chemistry · 2017Article
- Central hypogonadotropic hypogonadism: genetic complexity of a complex disease.International journal of endocrinology · 2014Review
- Impaired fertility and FSH synthesis in gonadotrope-specific Foxl2 knockout mice.Molecular endocrinology (Baltimore, Md.) · 2013Article
- Hypogonadotropic hypogonadism presenting with arhinia: a case report.Journal of medical case reports · 2013Article
- A comprehensive review of genetics and genetic testing in azoospermia.Clinics (Sao Paulo, Brazil) · 2013Review
- New understandings of the genetic basis of isolated idiopathic central hypogonadism.Asian journal of andrology · 2012Review
- Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.Molecular and cellular endocrinology · 2011Review
- Deletion of Otx2 in GnRH neurons results in a mouse model of hypogonadotropic hypogonadism.Molecular endocrinology (Baltimore, Md.) · 2011Article
- KISS1R intracellular trafficking and degradation: effect of the Arg386Pro disease-associated mutation.Endocrinology · 2011Article
- Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency.The Journal of clinical endocrinology and metabolism · 2010Article
- A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.Human reproduction (Oxford, England) · 2010Article
- [Testosterone and infertility].Der Urologe. Ausg. A · 2010Article
- Epidemiology, diagnosis, and treatment of male hypogonadotropic hypogonadism.Journal of endocrinological investigation · 2009Review
- The molecular basis of hypopituitarism.Trends in endocrinology and metabolism: TEM · 2009Review
- The neurokinin B pathway in human reproduction.Nature genetics · 2009Article
- [Genetics of male infertility].Der Urologe. Ausg. A · 2008Review
- Cellular signaling by fibroblast growth factors (FGFs) and their receptors (FGFRs) in male reproduction.Endocrine reviews · 2008Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The identification of naturally occurring genetic mutations has provided unique insight into the current knowledge of the human hypothalamic-pituitary-gonadal axis. In the past decade, several monogenic causes have been reported in patients with isolated gonadotropin deficiency. Kallmann Syndrome is a clinically and genetically heterogeneous disorder, characterized by isolated hypogonadotropic hypogonadism and anosmia or hyposmia. To date, loss-of-function mutations in the genes encoding anosmin-1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1) have been described in the X-linked and autosomal dominant forms of this syndrome, respectively. More recently, several heterozygous, homozygous or compound heterozygous mutations in the G protein-coupled prokineticin receptor-2 (PROKR2) and one of its ligands, prokineticin-2 (PROK2) were described in Kallmann syndrome. In addition, complex genetic transmission (digenic inheritance) was recently demonstrated in this condition. Regarding isolated hypogonadotropic hypogonadism without olfactory abnormalities, loss-of-function mutations in the Gonadotropin-releasing hormone (GnRH) receptor (GnRH-R) or the G-protein coupled receptor 54 (GPR54) genes, both encoding transmembrane receptors, have been described, as well as FGFR1 mutations. Finally, mutations of the beta sub-units of LH and FSH have been described in patients with selective gonadotropin deficiency. We review the role of these distinct genetic factors in human isolated hypogonadotropic hypogonadism.
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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.