Pioneering studies on monogenic central precocious puberty
Arch. endocrinol. metab. (Online)
;
63(4): 438-444, July-Aug. 2019. tab, graf
Article
in English
| LILACS
| ID: biblio-1019366
ABSTRACT
ABSTRACT Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. In this context, rare activating mutations were identified in genes of the kisspeptin excitatory pathway (KISS1R and KISS1 mutations). More recently, loss-of-function mutations in two imprinted genes (MKRN3 and DLK1) have been identified as important causes of familial CPP, describing novel players in the modulation of the hypothalamic-pituitary-gonadal axis in physiological and pathological conditions. MKRN3 mutations are the most common cause of familial CPP, and patients with MKRN3 mutations present clinical features indistinguishable from idiopathic CPP. Meanwhile, adult patients with DLK1 mutations present high frequency of metabolic alterations (overweight/obesity, early onset type 2 diabetes and hyperlipidemia), indicating that DLK1 may be a novel link between reproduction and metabolism. Arch Endocrinol Metab. 2019;63(4)438-44
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Puberty, Precocious
Type of study:
Etiology study
/
Prognostic study
Limits:
Humans
Language:
English
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
Endocrinology
/
Metabolism
Year:
2019
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de São Paulo/BR
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