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dc.contributor.author
Grinspon, Romina  
dc.date.available
2022-09-08T18:30:47Z  
dc.date.issued
2022-01  
dc.identifier.citation
Grinspon, Romina; Genetics of congenital central hypogonadism; Elsevier; Best Practice & Research Clinical Endocrinology & Metabolism; 36; 1; 1-2022; 1-15  
dc.identifier.issn
1521-690X  
dc.identifier.uri
http://hdl.handle.net/11336/168039  
dc.description.abstract
The diagnostic suspicion of congenital central hypogonadism is based on clinical signs. Biochemical confirmation is challenging, especially after the postnatal activation stage of the hypothalamic–pituitary–testicular axis. Sertoli cell markers, like AMH and inhibin B, have become useful tools for the diagnosis of male central hypogonadism during childhood. Different mechanisms can participate in the aetiopathogenesis of central hypogonadism, leading to a deficiency in the production of gonadotrophins. Advances in genetic studies, mainly next generation sequencing techniques, have allowed the discovery of a large number of genes related to central hypogonadism. However, a causal variant is found in approximately half of the patients. Central hypogonadism has been classically described as a pathology with variable expressivity and incomplete penetrance. Currently, these characteristics are known to be partially explained by the presence of oligogenicity, that is the participation of variants in more than one gene in the aetiology of central hypogonadism in the same patient.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Elsevier  
dc.rights
info:eu-repo/semantics/restrictedAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
CRYPTORCHIDISM  
dc.subject
DELAYED PUBERTY  
dc.subject
HYPOGONADOTROPHIC HYPOGONADISM  
dc.subject
KALLMANN SYNDROME  
dc.subject
MICROPENIS  
dc.subject
NEXT GENERATION SEQUENCING  
dc.subject.classification
Endocrinología y Metabolismo  
dc.subject.classification
Medicina Clínica  
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Genetics of congenital central hypogonadism  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2022-08-23T20:49:52Z  
dc.journal.volume
36  
dc.journal.number
1  
dc.journal.pagination
1-15  
dc.journal.pais
Países Bajos  
dc.journal.ciudad
Amsterdam  
dc.description.fil
Fil: Grinspon, Romina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina  
dc.journal.title
Best Practice & Research Clinical Endocrinology & Metabolism  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S1521690X21001160  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.beem.2021.101599