Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.
Mol Genet Genomic Med
; 10(12): e2087, 2022 12.
Article
en En
| MEDLINE
| ID: mdl-36353763
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_003836.5c.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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pubertad Precoz
/
Hiperuricemia
Tipo de estudio:
Prognostic_studies
/
Systematic_reviews
Límite:
Adult
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Child
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Humans
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Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2022
Tipo del documento:
Article
País de afiliación:
China