Familial male-limited precocious puberty due to Asp578His mutations in the LHCGR gene: clinical characteristics and gene analysis in an infant / 中国当代儿科杂志
Zhongguo dangdai erke zazhi
; Zhongguo dangdai erke zazhi;(12): 1159-1164, 2017.
Article
en Zh
| WPRIM
| ID: wpr-300429
Biblioteca responsable:
WPRO
ABSTRACT
The aim of the study was to provide a descriptive analysis of familial male-limited precocious puberty (FMPP), which is a rare inherited disease caused by heterozygous constitutively activating mutations of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR). The patient was a ten-month-old boy, presenting with penile enlargement, pubic hair formation, and spontaneous erections. Based on the clinical manifestations and laboratory data, including sexual characteristics, serum testosterone levels, GnRH stimulation test, and bone age, this boy was diagnosed with peripheral precocious puberty. Subsequently the precocious puberty-related genes were analyzed by direct DNA sequencing of amplified PCR products from the patient and his parents. Genetic analysis revealed a novel heterozygous missense mutation c.1732G>C (Asp578His) of the LHCGR gene exon11 in the patient, which had never been reported. His parents had no mutations. After combined treatment with aromatase inhibitor letrozole and anti-androgen spironolactone for six months, the patient's symptoms were controlled. The findings in this study expand the mutation spectrum of the LHCGR gene, and provide molecular evidence for the etiologic diagnosis as well as for the genetic counseling and prenatal diagnosis in the family.
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Pubertad Precoz
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Receptores de HL
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Química
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Quimioterapia
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Genética
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Heterocigoto
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Mutación
Límite:
Humans
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Infant
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Male
Idioma:
Zh
Revista:
Zhongguo dangdai erke zazhi
Año:
2017
Tipo del documento:
Article