Novel DNA variation of GPR54 gene in familial central precocious puberty
نویسندگان
چکیده
منابع مشابه
[Central precocious puberty].
Central precocious puberty, defined as the onset of puberty before the age 8 years in girls and 9 years in boys, results from a premature activation of gonadotropin-releasing hormone neurons in the hypothalamus. This condition is characterised by early pubertal changes, acceleration of growth velocity, and rapid bone maturation that often result in reduced adult height. It may be either idiopat...
متن کاملMutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty.
CONTEXT AND OBJECTIVE Idiopathic central precocious puberty (iCPP) is defined as early activation of the hypothalamic-pituitary-gonadal axis in the absence of identifiable central lesions. Mutations of the makorin RING finger 3 (MKRN3) gene are associated with iCPP. We aimed to assess the frequency of MKRN3 mutations in iCPP and to compare the phenotypes of patients with and without MKRN3 mutat...
متن کاملA case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene
BACKGROUND Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with familial precocious puberty. The MKRN3 is a maternal imprinted gene and the phenotype is expresse...
متن کاملSerum vitamin D levels in girls with central precocious puberty
Precocious puberty can cause several adverse effects on final growth and social behavior in girls. Recently studies showed that low serum vitamin D levels might be associated with precocious puberty. The aim of this research was to investigate the association between serum vitamin D levels and central precocious puberty in girls. Girls with central precocious puberty under the age of 8 we...
متن کاملThe characteristics of familial precocious puberty
Aims Precocious puberty is defined as the precocious onset of pubertal manifestations. The cause of precocious puberty is unknown despite numerous attempts to find it. Despite most precocious puberty is sporadic disease, some patients have familial tendency. Recently specific gene mutation has proven to cause precocious puberty and the existence of familial precocious puberty is emerging. This ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2019
ISSN: 1824-7288
DOI: 10.1186/s13052-019-0601-6