Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature
Abstract Background Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic–pituitary‐gonadal axis (HPG). MKRN3 defects are well‐known causes of CPP, while DLK1 mutations were recently identified in a few patients with CPP. Methods The study was appro...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-12-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2087 |
| _version_ | 1797844759395434496 |
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| author | Gaopin Yuan Xiaohong Zhang Shaofeng Liu Tingli Chen |
| author_facet | Gaopin Yuan Xiaohong Zhang Shaofeng Liu Tingli Chen |
| author_sort | Gaopin Yuan |
| collection | DOAJ |
| description | Abstract Background Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic–pituitary‐gonadal axis (HPG). MKRN3 defects are well‐known causes of CPP, while DLK1 mutations were recently identified in a few patients with CPP. Methods The study was approved by the Institutional Review and the scientific committee of the hospital. The clinical data were collected. Whole‐exome sequencing (WES) was performed to detect causative variants. Key words ‘DLK1’, ‘MKRN3’, and “central precocious puberty” were used for literature search in PubMed, Google Scholar, HGMD, and OMIM databases. Results The patient, a male, whose puberty began before age nine, had significant metabolic abnormalities including overweight, hyperlipidemia, and hyperuricemia. WES detected a recurrent frame‐shift mutation, NM_003836.5:c.479delC(p.P160fs*50) in DLK1 in the patient and his father. Conclusion The familial DLK1‐CPP was identified in China for the first time, which supported that short stature is predicted in patients with CPP without GnRHa treatment. Therefore, we recommend that children with DLK1‐CPP should be treated as early as possible to improve adult height. The patient in this study had persistent hyperuricemia, further suggests that this antiadipogenic factor represents a link between reproduction and metabolism. |
| first_indexed | 2024-04-09T17:27:28Z |
| format | Article |
| id | doaj.art-c53ed749463b467b850ebb0470edd0f1 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-09T17:27:28Z |
| publishDate | 2022-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-c53ed749463b467b850ebb0470edd0f12023-04-18T10:16:08ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-12-011012n/an/a10.1002/mgg3.2087Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literatureGaopin Yuan0Xiaohong Zhang1Shaofeng Liu2Tingli Chen3Department of Pediatric endocrinology Quanzhou Women's and Children's Hospital Quanzhou ChinaDepartment of Pediatric endocrinology Quanzhou Women's and Children's Hospital Quanzhou ChinaDepartment of Pediatric Surgery Quanzhou Women's and Children's Hospital Quanzhou ChinaDepartment of Pediatric endocrinology Quanzhou Women's and Children's Hospital Quanzhou ChinaAbstract Background Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic–pituitary‐gonadal axis (HPG). MKRN3 defects are well‐known causes of CPP, while DLK1 mutations were recently identified in a few patients with CPP. Methods The study was approved by the Institutional Review and the scientific committee of the hospital. The clinical data were collected. Whole‐exome sequencing (WES) was performed to detect causative variants. Key words ‘DLK1’, ‘MKRN3’, and “central precocious puberty” were used for literature search in PubMed, Google Scholar, HGMD, and OMIM databases. Results The patient, a male, whose puberty began before age nine, had significant metabolic abnormalities including overweight, hyperlipidemia, and hyperuricemia. WES detected a recurrent frame‐shift mutation, NM_003836.5:c.479delC(p.P160fs*50) in DLK1 in the patient and his father. Conclusion The familial DLK1‐CPP was identified in China for the first time, which supported that short stature is predicted in patients with CPP without GnRHa treatment. Therefore, we recommend that children with DLK1‐CPP should be treated as early as possible to improve adult height. The patient in this study had persistent hyperuricemia, further suggests that this antiadipogenic factor represents a link between reproduction and metabolism.https://doi.org/10.1002/mgg3.2087central precocious pubertyDLK1hyperuricemiamaternal imprinting |
| spellingShingle | Gaopin Yuan Xiaohong Zhang Shaofeng Liu Tingli Chen Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature Molecular Genetics & Genomic Medicine central precocious puberty DLK1 hyperuricemia maternal imprinting |
| title | Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature |
| title_full | Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature |
| title_fullStr | Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature |
| title_full_unstemmed | Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature |
| title_short | Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature |
| title_sort | chinese familial central precocious puberty with hyperuricemia due to recurrent dlk1 mutation case report and review of the literature |
| topic | central precocious puberty DLK1 hyperuricemia maternal imprinting |
| url | https://doi.org/10.1002/mgg3.2087 |
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