Show simple item record

Authordc.contributor.authorShahab, Muhammad 
Authordc.contributor.authorLippincott, Margaret 
Authordc.contributor.authorChan, Yee-Ming 
Authordc.contributor.authorDavies, Addie 
Authordc.contributor.authorMerino Osorio, Paulina 
Authordc.contributor.authorPlummer, Lacey 
Authordc.contributor.authorMericq, Verónica 
Authordc.contributor.authorSeminara, Stephanie 
Admission datedc.date.accessioned2018-07-23T20:38:17Z
Available datedc.date.available2018-07-23T20:38:17Z
Publication datedc.date.issued2018
Cita de ítemdc.identifier.citationJournal of Clinical Endocrinology & Metabolism, 103 (4): 1273-1276es_ES
Identifierdc.identifier.other10.1210/jc.2017-02636
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/150171
Abstractdc.description.abstractContext: Hypothalamic kisspeptin signaling plays a critical role in the initiation and maintenance of reproductive function. Biallelic mutations in the coding sequence of KISS1R (GPR54) have been identified in patients with idiopathic hypogonadotropic hypogonadism, but it is unknown whether biallelic variants can also be associated with related reproductive disorders. Case Description: A missense homozygous variant (c.890> T p. R297L) in KISS1R was identified in a child who presented with microphallus and bilateral cryptorchidism. This variant has been reported to reduce, but not abolish, postreceptor signaling in vitro. Biochemical evaluation during the neonatal period revealed low testosterone levels. By 11 years and 8 months, the boy began demonstrating increases in testicular volume. By 17 years and 3 months, his testicular volume was 20 mL; his penile length was 7.3 cm; and he had adult levels of circulating gonadotropins and testosterone. Conclusion: This case report associates biallelic loss-of-function mutations in KISS1R with normal timing of adolescent puberty. Because these coding sequence variants occurred in a patient with microphallus and cryptorchidism, they demonstrate different levels of dependence of the hypothalamic-pituitary-gonadal cascade on kisspeptin signaling at distinct times in the reproductive life span. The suppression of the hypothalamic-pituitary-gonadal cascade during early life but not adolescence suggests that the mini puberty of infancy depends more on kisspeptin-induced, gonadotropin-releasing hormone-induced luteinizing hormone secretion than does adolescent puberty.es_ES
Patrocinadordc.description.sponsorshipEunice K. Shriver National Institute for Child Health and Human Development R01 HD043341 P50 HD-28138 Doris Duke Clinical Scientist Development Award 2013110 Catalyst Medical Research Investigator Training Award from Harvard Catalyst Fulbright Visiting Scholarshipes_ES
Lenguagedc.language.isoenes_ES
Publisherdc.publisherOxford University Presses_ES
Sourcedc.sourceJournal of Clinical Endocrinology & Metabolismes_ES
Títulodc.titleDiscordance in the dependence on Kisspeptin signaling in mini puberty vs adolescent puberty: human genetic evidencees_ES
Document typedc.typeArtículo de revista
dcterms.accessRightsdcterms.accessRightsAcceso a solo metadatoses_ES
Catalogueruchile.catalogadortjnes_ES
Indexationuchile.indexArtículo de publicación ISIes_ES


Files in this item

Icon

This item appears in the following Collection(s)

Show simple item record