ReviewNeuroendocrinology2010
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Review in Neuroendocrinology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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Who cites it
40 citing papers in PubMed.
- Kisspeptin restores pulsatile LH secretion in patients with neurokinin B signaling deficiencies: physiological, pathophysiological and therapeutic implications.Neuroendocrinology · 2013Trial
- Therapeutic effects of a pulsatile GnRH pump on adult male patients with congenital hypogonadotropic hypogonadism (CHH): a retrospective study.Translational andrology and urology · 2025Article
- Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.Frontiers in endocrinology · 2024Article
- AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.Cell communication and signaling : CCS · 2023Article
- Treatment of congenital hypogonadotropic hypogonadism in male patients.Annals of pediatric endocrinology & metabolism · 2022Article
- Trafficking-defective mutant PROKR2 cycles between endoplasmic reticulum and Golgi to attenuate endoplasmic reticulum stress.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genetic Polymorphisms inInternational journal of molecular sciences · 2021Article
- Mechanisms underlying pre- and postnatal development of the vomeronasal organ.Cellular and molecular life sciences : CMLS · 2021Review
- Utilizing an Animal Model to Identify Brain Neurodegeneration-Related Biomarkers in Aging.International journal of molecular sciences · 2021Article
- Alternative Splicing Dynamics of the Hypothalamus-Pituitary-Ovary Axis During Pubertal Transition in Gilts.Frontiers in genetics · 2021Article
- Posttranslational Modification Defects in Fibroblast Growth Factor Receptor 1 as a Reason for Normosmic Isolated Hypogonadotropic Hypogonadism.Oxidative medicine and cellular longevity · 2020Article
- Identifying Isl1 Genetic Lineage in the Developing Olfactory System and in GnRH-1 Neurons.Frontiers in physiology · 2020Article
- HPG-Dependent Peri-Pubertal Regulation of Adult Neurogenesis in Mice.Frontiers in neuroanatomy · 2020Article
- Deletion of the Homeodomain Protein Six6 From GnRH Neurons Decreases GnRH Gene Expression, Resulting in Infertility.Endocrinology · 2019Article
- Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.Endocrine connections · 2019Article
- Haploinsufficiency of SIX3 Abolishes Male Reproductive Behavior Through Disrupted Olfactory Development, and Impairs Female Fertility Through Disrupted GnRH Neuron Migration.Molecular neurobiology · 2018Article
- Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.Metabolism: clinical and experimental · 2018Review
- Transcriptional interaction between cFOS and the homeodomain-binding transcription factor VAX1 on the GnRH promoter controls Gnrh1 expression levels in a GnRH neuron maturation specific manner.Molecular and cellular endocrinology · 2018Article
- Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.Human molecular genetics · 2018Article
- Reproductive endocrine phenotypes relating to CHD7 mutations in humans.American journal of medical genetics. Part C, Seminars in medical genetics · 2017Review
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Evolutionary survival of a species is largely a function of its reproductive fitness. In mammals, a sparsely populated and widely dispersed network of hypothalamic neurons, the gonadotropin-releasing hormone (GnRH) neurons, serve as the pilot light of reproduction via coordinated secretion of GnRH. Since it first description, human GnRH deficiency has been recognized both clinically and genetically as a heterogeneous disease. A spectrum of different reproductive phenotypes comprised of congenital GnRH deficiency with anosmia (Kallmann syndrome), congenital GnRH deficiency with normal olfaction (normosmic idiopathic hypogonadotropic hypogonadism), and adult-onset hypogonadotropic hypogonadism has been described. In the last two decades, several genes and pathways which govern GnRH ontogeny have been discovered by studying humans with GnRH deficiency. More importantly, detailed study of these patients has highlighted the emerging theme of oligogenicity and genotypic synergism, and also expanded the phenotypic diversity with the documentation of reversal of GnRH deficiency later in adulthood in some patients. The underlying genetic defect has also helped understand the associated nonreproductive phenotypes seen in some of these patients. These insights now provide practicing clinicians with targeted genetic diagnostic strategies and also impact on clinical management.
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