Go to JCI Insight
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact
  • Clinical Research and Public Health
  • Current issue
  • Past issues
  • By specialty
    • COVID-19
    • Cardiology
    • Gastroenterology
    • Immunology
    • Metabolism
    • Nephrology
    • Neuroscience
    • Oncology
    • Pulmonology
    • Vascular biology
    • All ...
  • Videos
    • Conversations with Giants in Medicine
    • Video Abstracts
  • Reviews
    • View all reviews ...
    • Complement Biology and Therapeutics (May 2025)
    • Evolving insights into MASLD and MASH pathogenesis and treatment (Apr 2025)
    • Microbiome in Health and Disease (Feb 2025)
    • Substance Use Disorders (Oct 2024)
    • Clonal Hematopoiesis (Oct 2024)
    • Sex Differences in Medicine (Sep 2024)
    • Vascular Malformations (Apr 2024)
    • View all review series ...
  • Viewpoint
  • Collections
    • In-Press Preview
    • Clinical Research and Public Health
    • Research Letters
    • Letters to the Editor
    • Editorials
    • Commentaries
    • Editor's notes
    • Reviews
    • Viewpoints
    • 100th anniversary
    • Top read articles

  • Current issue
  • Past issues
  • Specialties
  • Reviews
  • Review series
  • Conversations with Giants in Medicine
  • Video Abstracts
  • In-Press Preview
  • Clinical Research and Public Health
  • Research Letters
  • Letters to the Editor
  • Editorials
  • Commentaries
  • Editor's notes
  • Reviews
  • Viewpoints
  • 100th anniversary
  • Top read articles
  • About
  • Editors
  • Consulting Editors
  • For authors
  • Publication ethics
  • Publication alerts by email
  • Advertising
  • Job board
  • Contact

Citations to this article

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions
Luis Teixeira, … , Anne-Lise Delezoide, Jean-Pierre Hardelin
Luis Teixeira, … , Anne-Lise Delezoide, Jean-Pierre Hardelin
Published September 13, 2010
Citation Information: J Clin Invest. 2010;120(10):3668-3672. https://doi.org/10.1172/JCI43699.
View: Text | PDF
Brief Report Development Article has an altmetric score of 14

Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

  • Text
  • PDF
Abstract

Patients with Kallmann syndrome (KS) have hypogonadotropic hypogonadism caused by a deficiency of gonadotropin-releasing hormone (GnRH) and a defective sense of smell related to olfactory bulb aplasia. Based on the findings in a fetus affected by the X chromosome–linked form of the disease, it has been suggested that hypogonadism in KS results from the failed embryonic migration of neuroendocrine GnRH1 cells from the nasal epithelium to the forebrain. We asked whether this singular observation might extend to other developmental disorders that also include arrhinencephaly. We therefore studied the location of GnRH1 cells in fetuses affected by different arrhinencephalic disorders, specifically X-linked KS, CHARGE syndrome, trisomy 13, and trisomy 18, using immunohistochemistry. Few or no neuroendocrine GnRH1 cells were detected in the preoptic and hypothalamic regions of all arrhinencephalic fetuses, whereas large numbers of these cells were present in control fetuses. In all arrhinencephalic fetuses, many GnRH1 cells were present in the frontonasal region, the first part of their migratory path, as were interrupted olfactory nerve fibers that formed bilateral neuromas. Our findings define a pathological sequence whereby a lack of migration of neuroendocrine GnRH cells stems from the primary embryonic failure of peripheral olfactory structures. This can occur either alone, as in isolated KS, or as part of a pleiotropic disease, such as CHARGE syndrome, trisomy 13, and trisomy 18.

Authors

Luis Teixeira, Fabien Guimiot, Catherine Dodé, Catherine Fallet-Bianco, Robert P. Millar, Anne-Lise Delezoide, Jean-Pierre Hardelin

×

Total citations by year

Year: 2024 2023 2022 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2009 Total
Citations: 1 2 4 4 4 2 1 3 3 3 2 3 3 2 1 38
Citation information
This citation data is accumulated from CrossRef, which receives citation information from participating publishers, including this journal. Not all publishers participate in CrossRef, so this information is not comprehensive. Additionally, data may not reflect the most current citations to this article, and the data may differ from citation information available from other sources (for example, Google Scholar, Web of Science, and Scopus).

Citations to this article (38)

Title and authors Publication Year
Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants.
Zhang J, Yang S, Zhang Y, Liu F, Hao L, Han L
Frontiers in Endocrinology 2024
Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
Obata Y, Takayama K, Nishikubo H, Tobimatsu A, Matsuda I, Uehara Y, Maruo Y, Sho H, Kosugi M, Yasuda T
BMC Endocrine Disorders 2023
Insulin-like Growth Factor 1, Growth Hormone, and Anti-Müllerian Hormone Receptors Are Differentially Expressed during GnRH Neuron Development.
Paganoni AJJ, Cannarella R, Oleari R, Amoruso F, Antal R, Ruzza M, Olivieri C, Condorelli RA, La Vignera S, Tolaj F, Cariboni A, Calogero AE, Magni P
International journal of molecular sciences 2023
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism
Liu Q, Yin X, Li P
BMC Endocrine Disorders 2022
The Reproductive Outcome of Women with Hypogonadotropic Hypogonadism in IVF
Zhang CM, Zhang H, Yang R, Chen LX, Liu P, Li R, Qiao J, Wang Y
Frontiers in Endocrinology 2022
Testosterone therapy in children and adolescents: to whom, how, when?
Suarez A MC, Israeli JM, Kresch E, Telis L, Nassau DE
International Journal of Impotence Research 2022
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice.
Chachlaki K, Messina A, Delli V, Leysen V, Maurnyi C, Huber C, Ternier G, Skrapits K, Papadakis G, Shruti S, Kapanidou M, Cheng X, Acierno J, Rademaker J, Rasika S, Quinton R, Niedziela M, L'Allemand D, Pignatelli D, Dirlewander M, Lang-Muritano M, Kempf P, Catteau-Jonard S, Niederländer NJ, Ciofi P, Tena-Sempere M, Garthwaite J, Storme L, Avan P, Hrabovszky E, Carleton A, Santoni F, Giacobini P, Pitteloud N, Prevot V
Science Translational Medicine 2022
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases
LK Yang, ZS Hou, YX Tao
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2021
The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency
R Oleari, V Massa, A Cariboni, A Lettieri
International journal of molecular sciences 2021
Genetics of hypogonadotropic hypogonadism
AC Millar, H Faghfoury, JM Bieniek
Translational andrology and urology 2021
Conditional Fgfr1 Deletion in GnRH Neurons Leads to Minor Disruptions in the Reproductive Axis of Male and Female Mice
CD Cruz, CA Horton, KN Sanders, ND Andersen, PS Tsai
Frontiers in Endocrinology 2021
New insights into anti-Müllerian hormone role in the hypothalamic–pituitary–gonadal axis and neuroendocrine development
MS Silva, P Giacobini
Cellular and Molecular Life Sciences 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose
A Delaney, R Volochayev, B Meader, J Lee, K Almpani, GY Noukelak, J Henkind, L Chalmers, JR Law, KA Williamson, CM Jacobsen, TP Buitrago, O Perez, CH Cho, A Kaindl, A Rauch, K Steindl, JE Garcia, BE Russell, R Prasad, UK Mondal, HM Reigstad, S Clements, S Kim, K Inoue, G Arora, KB Salnikov, NP DiOrio, R Prada, Y Capri, K Morioka, M Mizota, RM Zechi-Ceide, NM Kokitsu-Nakata, C Tonello, S Vendramini-Pittoli, G da Silva Dalben, R Balasubramanian, AA Dwyer, SB Seminara, WF Crowley, L Plummer, JE Hall, JM Graham, AE Lin, ND Shaw
The Journal of clinical endocrinology and metabolism 2020
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes
A Gach, I Pinkier, M Szarras-Czapnik, A Sakowicz, L Jakubowski
Reproductive Biology and Endocrinology 2020
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss‐of‐function variants
AF Gileta, ML Helgeson, JM Leonard, LC Pyle, HP Subramanian, K Arndt, CP Hawkes, D del Gaudio
American journal of medical genetics. Part A 2020
Defective AMH signaling disrupts GnRH neuron development and function and contributes to hypogonadotropic hypogonadism
SA Malone, GE Papadakis, A Messina, NE Mimouni, S Trova, M Imbernon, C Allet, I Cimino, J Acierno, D Cassatella, C Xu, R Quinton, G Szinnai, P Pigny, L Alonso-Cotchico, L Masgrau, JD Maréchal, V Prevot, N Pitteloud, P Giacobini
eLife 2019
Correlation of olfactory phenotype by Indian smell identification test and quantitative MRI of olfactory apparatus in idiopathic hypogonadotropic hypogonadism
HR Nehara, B Sharma, A Kumar, S Saran, NK Mangalhara, SK Mathur
Indian journal of endocrinology and metabolism 2019
5例Kallmann综合征患者的临床及遗传学分析
2018
Reproductive endocrine phenotypes relating to CHD7 mutations in humans
R Balasubramanian, WF Crowley
American journal of medical genetics. Part C, Seminars in medical genetics 2017
Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys
KL Ayers, A Bouty, G Robevska, JA van Bergen, AZ Juniarto, NA Listyasari, AH Sinclair, SM Faradz
Human genomics 2017
The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs
EZ Taroc, A Prasad, JM Lin, PE Forni
Biology Open 2017
Cell migration in the developing rodent olfactory system
D Huilgol, S Tole
Cellular and Molecular Life Sciences 2016
Spectrum of Clinical and Associated MR Imaging Findings in Children with Olfactory Anomalies
TN Booth, NK Rollins
American Journal of Neuroradiology 2016
ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1
F de Castro, R Seal, R Maggi
Briefings in Functional Genomics 2016
Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment
U Boehm, PM Bouloux, MT Dattani, N Roux, C Dodé, L Dunkel, AA Dwyer, P Giacobini, JP Hardelin, A Juul, M Maghnie, N Pitteloud, V Prevot, T Raivio, M Tena-Sempere, R Quinton, J Young
Nature Reviews Endocrinology 2015
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
J Sarfati, C Bouvattier, H Bry-Gauillard, A Cartes, J Bouligand, J Young
Orphanet Journal of Rare Diseases 2015
Maturation and Dysgenesis of the Human Olfactory Bulb: Olfactory Bulb
HB Sarnat, W Yu
Brain Pathology 2015
CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance
Y Schulz, P Wehner, L Opitz, G Salinas-Riester, EM Bongers, CM van Ravenswaaij-Arts, J Wincent, J Schoumans, J Kohlhase, A Borchers, S Pauli
Human Genetics 2014
Morphological changes of gonadotropin-releasing hormone neurons in the rat preoptic area across puberty
H Xue, X Gai, W Sun, C Li, Q Liu
NEURAL REGEN RES 2014
Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
V Pingault, V Bodereau, V Baral, S Marcos, Y Watanabe, A Chaoui, C Fouveaut, C Leroy, O Vérier-Mine, C Francannet, D Dupin-Deguine, F Archambeaud, FJ Kurtz, J Young, J Bertherat, S Marlin, M Goossens, JP Hardelin, C Dodé, N Bondurand
The American Journal of Human Genetics 2013
PROK2/PROKR2 Signaling and Kallmann Syndrome
C Dodé, P Rondard
Frontiers in Endocrinology 2013
Luteinizing Hormone-Releasing Hormone Distribution in the Anterior Hypothalamus of the Female Rats
L Castañeyra-Ruiz, I González-Marrero, A Castañeyra-Ruiz, JM González-Toledo, M Castañeyra-Ruiz, H Paz-Carmona, A Castañeyra-Perdomo, EM Carmona-Calero
ISRN Anatomy 2013
SEMA3A, a Gene Involved in Axonal Pathfinding, Is Mutated in Patients with Kallmann Syndrome
NK Hanchate, P Giacobini, P Lhuillier, J Parkash, C Espy, C Fouveaut, C Leroy, S Baron, C Campagne, C Vanacker, F Collier, C Cruaud, V Meyer, A García-Piñero, D Dewailly, C Cortet-Rudelli, K Gersak, C Metz, G Chabrier, M Pugeat, J Young, JP Hardelin, V Prevot, C Dodé
PLoS genetics 2012
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome
K Vaaralahti, T Raivio, R Koivu, L Valanne, EM Laitinen, J Tommiska
Molecular syndromology 2012
Reversible Congenital Hypogonadotropic Hypogonadism in Patients with CHD7, FGFR1 or GNRHR Mutations
EM Laitinen, J Tommiska, T Sane, K Vaaralahti, J Toppari, T Raivio
PloS one 2012
Incidence, Phenotypic Features and Molecular Genetics of Kallmann Syndrome in Finland
EM Laitinen, K Vaaralahti, J Tommiska, E Eklund, M Tervaniemi, L Valanne, T Raivio
Orphanet Journal of Rare Diseases 2011
Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism
C Bouvattier, L Maione, J Bouligand, C Dodé, A Guiochon-Mantel, J Young
Nature Reviews Endocrinology 2011
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009

← Previous 1 2 Next →

Advertisement

Copyright © 2025 American Society for Clinical Investigation
ISSN: 0021-9738 (print), 1558-8238 (online)

Sign up for email alerts

Blogged by 2
Referenced in 1 Wikipedia pages
48 readers on Mendeley
See more details