Abstract
BackgroundThe mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition. Familial forms of constitutional delay of puberty (CDP) suggest the involvement of genetic factors. The purpose of this study is to describe the presentation and the mode of inheritance of CDP in a series of familial cases.MethodsA retrospective, single center study was carried out over 10 years on 48 probands (14 girls and 34 boys) from 48 families seen for CDP with a familial component.ResultsOf the 48 probands, 46 (96 %) had at least one affected 1st degree relatives and 2 (4 %, 2 boys) had only 2nd degree relatives affected.In girls, 11 families (79 %) exhibited exclusive maternal inheritance, 1 (7 %) paternal inheritance and 2 (14 %) both maternal and paternal inheritance. In boys, 14 families (41 %) exhibited exclusive maternal inheritance, 12 (35 %) paternal inheritance and 8 (24 %) both maternal and paternal inheritance.In the boys with bilineal inheritance, the ages at onset of puberty (16 ± 1.41 years) and at evaluation (16.05 ± 2.47 years) were higher than in those with unilineal inheritance (15.25 ± 0.35 and 15.1 ± 0.42 years respectively), but the difference was not significant.ConclusionsIn girls exclusive maternal inheritance seems to be the major mode of inheritance whereas for boys the mode of inheritance was almost equally maternal, paternal or bilineal. Clinical phenotype of boys with bilineal inheritance seems to be more severe, but the difference did not reach statistical significance, perhaps because of the small sample size. This greater severity of the phenotype in boys with bilineal inheritance is likely due to inheriting different puberty timing genes from each parent. Future research should be directed at identifying such genes.
Highlights
The mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition
The constitutional delay of puberty (CDP) can be diagnosed only after underlying conditions have been ruled out and when the pubertal delay is followed by spontaneous pubertal development [1]
Kaprio et al [4] analyzed the age at menarche in monozygotic twins and showed that 74 % of the variance is due to genetic factors and 26 % to environmental factors
Summary
The mechanism that initiates the onset of puberty is largely unknown but the age of onset is mainly under genetic control and influenced by environmental factors including nutrition. Familial forms of constitutional delay of puberty (CDP) suggest the involvement of genetic factors. Delayed puberty is diagnosed when there is no testicular enlargement after 14 years in boys or breast development after 13 years in girls. The constitutional delay of puberty (CDP) can be diagnosed only after underlying conditions have been ruled out and when the pubertal delay is followed by spontaneous pubertal development [1]. Boys are affected much more frequently than girls, The age at onset and the progression of puberty are driven by a complex interaction between genetic, metabolic and environmental factors. The age at onset of puberty is often homogeneous within the family and concordant between twins [3]. The frequency of the familial forms has been reported at 56–80 % in CPD [5] while they represent 41 % in our series of 493 girls with
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