Cargando…
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene
Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males. Despite the pattern of autosomal dominant inheritance, sporadic cases also may occur. Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early viriliza...
Autores principales: | , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677562/ https://www.ncbi.nlm.nih.gov/pubmed/26831561 http://dx.doi.org/10.4274/jcrpe.2067 |
_version_ | 1782405344133120000 |
---|---|
author | Özcabı, Bahar Tahmiscioğlu Bucak, Feride Ceylaner, Serdar Özcan, Rahşan Büyükünal, Cenk Ercan, Oya Tüysüz, Beyhan Evliyaoğlu, Olcay |
author_facet | Özcabı, Bahar Tahmiscioğlu Bucak, Feride Ceylaner, Serdar Özcan, Rahşan Büyükünal, Cenk Ercan, Oya Tüysüz, Beyhan Evliyaoğlu, Olcay |
author_sort | Özcabı, Bahar |
collection | PubMed |
description | Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males. Despite the pattern of autosomal dominant inheritance, sporadic cases also may occur. Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early virilization and advancement in bone age are common with increased serum testosterone levels above adult ranges, despite low LH and follicular-stimulating hormone (FSH) levels. There are different treatment regimens, such as combination of bicalutamide (antiandrogen agent) and a third-generation aromatase inhibitor, that are reported to be well-tolerated and successful in slowing bone age advancement and preventing progression of virilization. We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). Combination of bicalutamide+anastrozole was ineffective in slowing pubertal progression and bone age. Short-term results were better with ketoconazole. |
format | Online Article Text |
id | pubmed-4677562 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Galenos Publishing |
record_format | MEDLINE/PubMed |
spelling | pubmed-46775622015-12-16 Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene Özcabı, Bahar Tahmiscioğlu Bucak, Feride Ceylaner, Serdar Özcan, Rahşan Büyükünal, Cenk Ercan, Oya Tüysüz, Beyhan Evliyaoğlu, Olcay J Clin Res Pediatr Endocrinol Case Report Testotoxicosis is a rare disorder which presents as isosexual peripheral precocious puberty in males. Despite the pattern of autosomal dominant inheritance, sporadic cases also may occur. Due to activating mutation in luteinizing hormone (LH))/choriogonadotropin receptor (LHCGR) gene, early virilization and advancement in bone age are common with increased serum testosterone levels above adult ranges, despite low LH and follicular-stimulating hormone (FSH) levels. There are different treatment regimens, such as combination of bicalutamide (antiandrogen agent) and a third-generation aromatase inhibitor, that are reported to be well-tolerated and successful in slowing bone age advancement and preventing progression of virilization. We report here two patients who presented with peripheral precocious puberty and an activating mutation in the LHCGR gene: one with a family history and previously determined mutation and the other without family history and with a novel mutation (c.830G>T). Combination of bicalutamide+anastrozole was ineffective in slowing pubertal progression and bone age. Short-term results were better with ketoconazole. Galenos Publishing 2015-09 2015-08-31 /pmc/articles/PMC4677562/ /pubmed/26831561 http://dx.doi.org/10.4274/jcrpe.2067 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Özcabı, Bahar Tahmiscioğlu Bucak, Feride Ceylaner, Serdar Özcan, Rahşan Büyükünal, Cenk Ercan, Oya Tüysüz, Beyhan Evliyaoğlu, Olcay Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene |
title | Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene |
title_full | Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene |
title_fullStr | Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene |
title_full_unstemmed | Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene |
title_short | Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene |
title_sort | testotoxicosis: report of two cases, one with a novel mutation in lhcgr gene |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4677562/ https://www.ncbi.nlm.nih.gov/pubmed/26831561 http://dx.doi.org/10.4274/jcrpe.2067 |
work_keys_str_mv | AT ozcabıbahar testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT tahmiscioglubucakferide testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT ceylanerserdar testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT ozcanrahsan testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT buyukunalcenk testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT ercanoya testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT tuysuzbeyhan testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene AT evliyaogluolcay testotoxicosisreportoftwocasesonewithanovelmutationinlhcgrgene |