Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene
A male child, aged seven months, visited the out patients clinic of the National Institute of Child Health, Karachi, in May 2020 with the features of iso-sexual puberty. After ruling out the more common causes of early puberty, like congenital adrenal hyperplasia and tumours secreting chorionic gon...
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| Format: | Article |
| Language: | English |
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Pakistan Medical Association
2023-11-01
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| Series: | Journal of the Pakistan Medical Association |
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| Online Access: | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/7455 |
| _version_ | 1797435747471458304 |
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| author | Ayesha Shahid Mohsina Noor Ibrahim |
| author_facet | Ayesha Shahid Mohsina Noor Ibrahim |
| author_sort | Ayesha Shahid |
| collection | DOAJ |
| description |
A male child, aged seven months, visited the out patients clinic of the National Institute of Child Health, Karachi, in May 2020 with the features of iso-sexual puberty. After ruling out the more common causes of early puberty, like congenital adrenal hyperplasia and tumours secreting chorionic gonadotropin hormone, hormonal assessment indicated raised testosterone independent of gonadotropin. The volume of the testicles was symmetric and testicular ultrasonography revealed no mass. Genetic analysis for the LHCGR gene was performed for confirmation which revealed activating heterozygous missense pathogenic mutation in c.1732G>T (p.Asp578Tyr). This is the first reported case of testotoxicosis (FMPP) from Pakistan which was genetically confirmed.
Keywords: Testosterone, Puberty, Gonadotrophins, Mutation, Genetic.
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| first_indexed | 2024-03-09T10:52:42Z |
| format | Article |
| id | doaj.art-b5f82b457ed44aff9b1a6741a2f5153a |
| institution | Directory Open Access Journal |
| issn | 0030-9982 |
| language | English |
| last_indexed | 2024-03-09T10:52:42Z |
| publishDate | 2023-11-01 |
| publisher | Pakistan Medical Association |
| record_format | Article |
| series | Journal of the Pakistan Medical Association |
| spelling | doaj.art-b5f82b457ed44aff9b1a6741a2f5153a2023-12-01T05:14:06ZengPakistan Medical AssociationJournal of the Pakistan Medical Association0030-99822023-11-01731210.47391/JPMA.7455Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR geneAyesha Shahid0Mohsina Noor Ibrahim1Department of Paediatric Medicine, National Institute of Child Health, Karachi, PakistanDepartment of Paediatric Endocrinology, National Institute of Child Health, Karachi, Pakistan A male child, aged seven months, visited the out patients clinic of the National Institute of Child Health, Karachi, in May 2020 with the features of iso-sexual puberty. After ruling out the more common causes of early puberty, like congenital adrenal hyperplasia and tumours secreting chorionic gonadotropin hormone, hormonal assessment indicated raised testosterone independent of gonadotropin. The volume of the testicles was symmetric and testicular ultrasonography revealed no mass. Genetic analysis for the LHCGR gene was performed for confirmation which revealed activating heterozygous missense pathogenic mutation in c.1732G>T (p.Asp578Tyr). This is the first reported case of testotoxicosis (FMPP) from Pakistan which was genetically confirmed. Keywords: Testosterone, Puberty, Gonadotrophins, Mutation, Genetic. https://www.ojs.jpma.org.pk/index.php/public_html/article/view/7455TestosteronePubertyGonadotrophinsMutationGenetic |
| spellingShingle | Ayesha Shahid Mohsina Noor Ibrahim Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene Journal of the Pakistan Medical Association Testosterone Puberty Gonadotrophins Mutation Genetic |
| title | Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene |
| title_full | Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene |
| title_fullStr | Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene |
| title_full_unstemmed | Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene |
| title_short | Gonadotropin independent sexual precocity in a Pakistani male infant from an activating mutation in LHCGR gene |
| title_sort | gonadotropin independent sexual precocity in a pakistani male infant from an activating mutation in lhcgr gene |
| topic | Testosterone Puberty Gonadotrophins Mutation Genetic |
| url | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/7455 |
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