ReviewJournal of endocrinological investigation2000
Genetics of hypogonadotropic hypogonadism.
Review in Journal of endocrinological investigation, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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
12 citing papers in PubMed, 82 citations in OpenAlex.
- Isolated anterior pituitary dysfunction in adulthood.Frontiers in endocrinology · 2023Review
- Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant.Annals of pediatric endocrinology & metabolism · 2020Article
- Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism.American journal of human genetics · 2020Article
- Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.Molecular syndromology · 2019Article
- Gynaecomastia--pathophysiology, diagnosis and treatment.Nature reviews. Endocrinology · 2014Review
- DSDs: genetics, underlying pathologies and psychosexual differentiation.Nature reviews. Endocrinology · 2014Review
- "Been hit twice": a novel bi-allelic heterozygous mutation in LHCGR.Journal of assisted reproduction and genetics · 2014Article
- Relevance of genetic investigation in male infertility.Journal of endocrinological investigation · 2014Review
- Genetics of the first seven proprotein convertase enzymes in health and disease.Current genomics · 2013Article
- The Novel Actions of the Metabolite GnRH-(1-5) are Mediated by a G Protein-Coupled Receptor.Frontiers in endocrinology · 2013Article
- Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism.Journal of clinical research in pediatric endocrinology · 2012Article
- The reproductive performance of women with hypogonadotropic hypogonadism in an in vitro fertilization and embryo transfer program.Journal of assisted reproduction and genetics · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Determining the physiologic influences that modulate GnRH secretion, the prime initiator of reproductive function in the human, is fundamental not only to our understanding of the rare condition of congenital idiopathic hypogonadotropic hypogonadism (IHH), but also common disorders such as constitutional delay of puberty and hypothalamic amenorrhea. IHH is characterized by low levels of sex steroids and gonadotropins, normal findings on radiographic imaging of the hypothalamic-pituitary regions, and normal baseline and reserve testing of the remainder of the hypothalamic-pituitary axes. Failure of the normal pattern of episodic GnRH secretion results in delay of puberty and infertility. IHH is characterized by rich clinical and genetic heterogeneity, variable modes of inheritance, and association with other anomalies. To date, 4 genes have been identified as causes of IHH in the human; KAL [the gene for X-linked Kallmann syndrome (IHH and anosmia)], DAX1 [the gene for X-linked adrenal hypoplasia congenita (IHH and adrenal insufficiency)], GNRHR (the GnRH receptor), and PC1 (the gene for prohormone convertase 1, causing a syndrome of IHH and defects in prohormone processing). As these mutations account for less than 20% of all IHH cases, discovery of additional gene mutations will continue to advance our understanding of this intriguing syndrome.
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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.