Association of the GAA1013→GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche

Roldan, Maria Belen; White, Christopher B.; Witchel, Selma F.

doi:10.1016/j.fertnstert.2006.11.126

Cited by 26 publications

(13 citation statements)

References 55 publications

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“…In the Finnish cohort, the lean PA subjects had shorter CAG n than the PA subjects with higher BMI or the lean control subjects, suggesting that more active AR may play a significant role especially in lean PA subject [72]. The minor variant G at SNP E1013E in IGF-1R has been associated with higher circulating IGF-1 levels, and the frequency of this minor variant was increased in American PA children [73]. …”

Section: Genetic Background Of Pamentioning

confidence: 99%

Premature Adrenarche - A Common Condition with Variable Presentation

et al. 2015

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Adrenarche refers to a maturational increase in the secretion of adrenal androgen precursors, mainly dehydroepiandrosterone (DHEA) and its sulfate (DHEAS). In premature adrenarche (PA), clinical signs of androgen action appear before the age of 8/9 years in girls/boys, concurrently with the circulating DHEA(S) concentrations above the usually low prepubertal level. The most pronounced sign of PA is the appearance of pubic/axillary hair, but also other signs of androgen effect (adult type body odor, acne/comedones, greasy hair, accelerated statural growth) are important to recognize. PA children are often overweight and taller than their peers, and the higher prevalence of PA in girls than in boys is probably explained by higher female adiposity and peripheral DHEA(S) conversion to active androgens. PA diagnosis requires exclusion of other causes of androgen excess: congenital adrenal hyperplasia, androgen-producing tumors, precocious puberty, and exogenous source of androgens. PA has been linked with unfavorable metabolic features including hyperinsulinism, dyslipidemia, and later-appearing ovarian hyperandrogenism. Although this common condition is usually benign, PA children with additional risk factors including obesity should be followed up, with the focus on weight and lifestyle. Long-term follow-up studies are warranted to clarify if the metabolic changes detected in PA children persist until adulthood.

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Section: Genetic Background Of Pamentioning

confidence: 99%

Premature Adrenarche - A Common Condition with Variable Presentation

et al. 2015

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“…Several studies have searched for genetic factors predisposing to premature juvenility in genes involved in steroid synthesis [33,34], androgen action [35,36], IGF functions [37,38], and the Wnt signaling TCF7L2 [39]. Although some associations have been found, the underlying susceptibility genes remain largely unknown.…”

Section: Premature Juvenilitymentioning

confidence: 99%

Evo-Devo of Child Growth III: Premature Juvenility as an Evolutionary Trade-Off

Hochberg

2010

Horm Res Paediatr

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Juvenility was previously defined as a distinct clinical life history stage, characterized by adrenarche, decelerating growth and accelerating adiposity. This review presents the theory of evolutionary predictive adaptive strategies for premature juvenility in response to (mostly) energy supply, but also to other environmental cues. In the absence of longitudinal adrenal androgen levels, premature juvenility can be diagnosed by auxological criteria. Syndromes of short stature that are associated with premature juvenility include Prader-Willi syndrome, Silver-Russell syndrome and Noonan syndrome, and it is part of the pygmy adaptive shortness of stature. The review elucidates in evolutionary terms the association of premature juvenility with SGA and PCOS.

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“…Pubertal growth spurt results mainly from the synergistic effects of significantly higher levels of gonadal sex steroids, growth hormone (GH), and insulin growth factor-1 (IGF-1) during this period (2). A polymorphism in the IGF-1 receptor gene (GAA1013 to GAG) is significantly associated with early pubarche (10). Furthermore, a potential effect of SNP3 (rs6214) in the IGF-1 gene on the age at menarche in white women has been reported (11).…”

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confidence: 99%

Study of leptin levels and gene polymorphisms in patients with central precocious puberty

Yang

et al. 2012

Pediatr Res

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Association of the GAA1013→GAG polymorphism of the insulin-like growth factor-1 receptor (IGF1R) gene with premature pubarche

Cited by 26 publications

References 55 publications

Premature Adrenarche - A Common Condition with Variable Presentation

Premature Adrenarche - A Common Condition with Variable Presentation

Evo-Devo of Child Growth III: Premature Juvenility as an Evolutionary Trade-Off

Study of leptin levels and gene polymorphisms in patients with central precocious puberty

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