A Case of Familial Male-limited Precocious Puberty with a Novel Mutation
Familial male-limited precocious puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is caused by a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor being constitutively activated. This causes exc...
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| Format: | Article |
| Language: | English |
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Galenos Yayincilik
2021-06-01
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| Series: | JCRPE |
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| Online Access: |
http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-familial-male-limited-precocious-puberty/39964
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| _version_ | 1797914663061553152 |
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| author | Shilpa Gurnurkar Emily DiLillo Mauri Carakushansky |
| author_facet | Shilpa Gurnurkar Emily DiLillo Mauri Carakushansky |
| author_sort | Shilpa Gurnurkar |
| collection | DOAJ |
| description | Familial male-limited precocious puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is caused by a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor being constitutively activated. This causes excessive production of testosterone, leading to precocious puberty in males. Generally, boys present with signs of puberty, such as pubic hair growth, acne, and increased height velocity around the age of 2-4 years old. Like any other cause of precocious puberty, the goal of treatment is to prevent virilization and also delay closure of the epiphyseal plates to maintain adult height potential. Treatment, therefore, is aimed at decreasing the effects of testosterone, as well as stopping the conversion of testosterone to estrogen. Little is known about the long-term effects of treatment because the disorder is so rare. However, studies using bicalutamide and anastrozole have been promising. In this report, we present a boy with FMPP with a novel mutation in the LHCGR gene, who has been responding well to therapy using both drugs. |
| first_indexed | 2024-04-10T12:30:48Z |
| format | Article |
| id | doaj.art-5dafb1f35012462db7bad401dc51e357 |
| institution | Directory Open Access Journal |
| issn | 1308-5727 1308-5735 |
| language | English |
| last_indexed | 2024-04-10T12:30:48Z |
| publishDate | 2021-06-01 |
| publisher | Galenos Yayincilik |
| record_format | Article |
| series | JCRPE |
| spelling | doaj.art-5dafb1f35012462db7bad401dc51e3572023-02-15T16:14:57ZengGalenos YayincilikJCRPE1308-57271308-57352021-06-0113223924410.4274/jcrpe.galenos.2020.2020.006713049054A Case of Familial Male-limited Precocious Puberty with a Novel MutationShilpa Gurnurkar0Emily DiLillo1Mauri Carakushansky2 Nemours Children’s Hospital, Clinic of Pediatrics, Florida, USA Nemours Children’s Hospital, Clinic of Pediatrics, Florida, USA Nemours Children’s Hospital, Clinic of Pediatrics, Florida, USA Familial male-limited precocious puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is caused by a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor being constitutively activated. This causes excessive production of testosterone, leading to precocious puberty in males. Generally, boys present with signs of puberty, such as pubic hair growth, acne, and increased height velocity around the age of 2-4 years old. Like any other cause of precocious puberty, the goal of treatment is to prevent virilization and also delay closure of the epiphyseal plates to maintain adult height potential. Treatment, therefore, is aimed at decreasing the effects of testosterone, as well as stopping the conversion of testosterone to estrogen. Little is known about the long-term effects of treatment because the disorder is so rare. However, studies using bicalutamide and anastrozole have been promising. In this report, we present a boy with FMPP with a novel mutation in the LHCGR gene, who has been responding well to therapy using both drugs. http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-familial-male-limited-precocious-puberty/39964 familial male-limited precocious pubertybone ageshort statureadult height |
| spellingShingle | Shilpa Gurnurkar Emily DiLillo Mauri Carakushansky A Case of Familial Male-limited Precocious Puberty with a Novel Mutation JCRPE familial male-limited precocious puberty bone age short stature adult height |
| title | A Case of Familial Male-limited Precocious Puberty with a Novel Mutation |
| title_full | A Case of Familial Male-limited Precocious Puberty with a Novel Mutation |
| title_fullStr | A Case of Familial Male-limited Precocious Puberty with a Novel Mutation |
| title_full_unstemmed | A Case of Familial Male-limited Precocious Puberty with a Novel Mutation |
| title_short | A Case of Familial Male-limited Precocious Puberty with a Novel Mutation |
| title_sort | case of familial male limited precocious puberty with a novel mutation |
| topic | familial male-limited precocious puberty bone age short stature adult height |
| url |
http://www.jcrpe.org/archives/archive-detail/article-preview/a-case-of-familial-male-limited-precocious-puberty/39964
|
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