MKRN3 and KISS1R mutations in precocious and early puberty
نویسندگان
چکیده
منابع مشابه
Mutations 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 کاملCentral precocious puberty caused by mutations in the imprinted gene MKRN3.
BACKGROUND The onset of puberty is first detected as an increase in pulsatile secretion of gonadotropin-releasing hormone (GnRH). Early activation of the hypothalamic-pituitary-gonadal axis results in central precocious puberty. The timing of pubertal development is driven in part by genetic factors, but only a few, rare molecular defects associated with central precocious puberty have been ide...
متن کاملPuberty, Precocious Puberty and Delayed Puberty
During puberty a child’s body matures into the body of an adult. During this process pathological faults can occur. An early onset of puberty might, for example, cause dwarfism. Psychological stress of the patients is not negligible and should be taken into consideration in medical consultation. The following article provides soon-to-be physicians with a summary of puberty and its malfunctions,...
متن کاملPuberty, Precocious Puberty and Delayed Puberty
During puberty a child’s body matures into the body of an adult. During this process pathological faults can occur. An early onset of puberty might, for example, cause dwarfism. Psychological stress of the patients is not negligible and should be taken into consideration in medical consultation. The following article provides soon-to-be physicians with a summary of puberty and its malfunctions,...
متن کاملPuberty, Precocious Puberty and Delayed Puberty
During puberty a child’s body matures into the body of an adult. During this process pathological faults can occur. An early onset of puberty might, for example, cause dwarfism. Psychological stress of the patients is not negligible and should be taken into consideration in medical consultation. The following article provides soon-to-be physicians with a summary of puberty and its malfunctions,...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2020
ISSN: 1824-7288
DOI: 10.1186/s13052-020-0808-6