An update on the genetic causes of central precocious puberty
Annals of Pediatric Endocrinology & Metabolism
;
: 66-69, 2016.
Article
in English
| WPRIM
| ID: wpr-145152
ABSTRACT
Central precocious puberty (CPP) is caused by the premature reactivation of the hypothalamic-pituitary-gonadal axis. Genetic, nutritional, and environmental factors play a crucial role in determining pubertal timing. Recently mutations in kisspeptin (KISS1), kisspeptin receptor (KISS1R), and makorin RING finger protein 3 (MKRN3) genes have been identified as genetic causes of CPP. In particular, the MKRN3 gene is known to affect pubertal initiation. The MKRN3 gene is located on chromosome 15q11-q13 in the Prader-Willi syndrome (PWS) critical region. MKRN3 deficiency, due to a loss of function mutation, leads to the withdrawal of hypothalamic inhibition and prompts pulsatile gonadotropin-releasing hormone secretion, resulting in precocious puberty. The exact functions of these genes associated with CPP are still not well understood. Larger studies are required to discover the mechanisms involved in pubertal development.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prader-Willi Syndrome
/
Puberty, Precocious
/
Gonadotropin-Releasing Hormone
/
Kisspeptins
/
Fingers
Type of study:
Etiology study
/
Prognostic study
Language:
English
Journal:
Annals of Pediatric Endocrinology & Metabolism
Year:
2016
Type:
Article
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