Constitutional delay of puberty: presentation and inheritance pattern in 48 familial cases

BMC Pediatrics

Research Article

Kenneth McElreavey¹  Sarah Winter²  Aldjia Ousidhoum²  Raja Brauner² 

[1] Human Developmental Genetics, Institut Pasteur, Paris, France;Université Paris Descartes and Fondation Ophtalmologique Adolphe de Rothschild, Paris, France;

关键词: CDP constitutional delay of puberty;    GnRH;    Hypothalamic-pituitary-gonadal axis;    Pubertal delay;    Unilineal and bilineal inheritance;    Autosomal dominant inheritance;   

DOI  :  10.1186/s12887-016-0580-3

 received in 2015-04-22, accepted in 2016-03-09,  发布年份 2016

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY   
© Winter et al. 2016