This Article Full Text Full Text (PDF) Submit a related Letter to the Editor Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by de Vries, L. Articles by Phillip, M. Search for Related Content PubMed PubMed Citation Articles by de Vries, L. Articles by Phillip, M. Pubmed/NCBI databases OMIM

Familial Central Precocious Puberty Suggests Autosomal Dominant Inheritance

Institute for Endocrinology and Diabetes, National Center for Childhood Diabetes (L.d.V., A.K., M.P.), and Institute of Genetics (M.S.), Schneider Children’s Medical Center of Israel, Petah Tiqva, and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel 49202

Address all correspondence and requests for reprints to: Liat de Vries, M.D., Institute of Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, 14 Kaplan Street, Petah Tiqva, Israel 49202. E-mail: liatd{at}clalit.org.il.

The prevalence of precocious puberty is higher in certain ethnic groups, and some cases may be familial. The aim of this study was to investigate the mode of inheritance of familial precocious puberty and to identify characteristics that distinguish familial from isolated precocious puberty. Of the 453 children referred to our center for suspected precocious puberty between January 1, 1997, and December 31, 2000, 156 (147 girls and 9 boys) were found to have idiopathic central precocious puberty, which was familial in 43 (42 girls and 1 boy) (27.5%). Data of the familial and sporadic cases were compared. The familial group was characterized by a significantly lower maternal age at menarche than the sporadic group (mean, 11.47 ± 1.96 vs. 12.66 ± 1.18 yr; P = 0.0001) and more advanced puberty at admission (Tanner stage 2, 56.5% vs. 78.1%; P = 0.006). Segregation analysis was used to study the mode of inheritance. The segregation ratio for precocious puberty was 0.38 (0.45 after exclusion of young siblings) assuming incomplete penetrance and 0.58 (0.65 after exclusion of young siblings) assuming complete ascertainment. These results suggest autosomal dominant transmission with incomplete, sex-dependent penetrance.

Abbreviations: BMI, Body mass index; FPP, familial precocious puberty; SDS, SD score; SPP, sporadic precocious puberty.

This article has been cited by other articles:

				K. Wehkalampi, E. Widen, T. Laine, A. Palotie, and L. Dunkel Association of the Timing of Puberty with a Chromosome 2 Locus J. Clin. Endocrinol. Metab., December 1, 2008; 93(12): 4833 - 4839. [Abstract] [Full Text] [PDF]

				K. Wehkalampi, E. Widen, T. Laine, A. Palotie, and L. Dunkel Patterns of Inheritance of Constitutional Delay of Growth and Puberty in Families of Adolescent Girls and Boys Referred to Specialist Pediatric Care J. Clin. Endocrinol. Metab., March 1, 2008; 93(3): 723 - 728. [Abstract] [Full Text] [PDF]

				M. G. Teles, S. D.C. Bianco, V. N. Brito, E. B. Trarbach, W. Kuohung, S. Xu, S. B. Seminara, B. B. Mendonca, U. B. Kaiser, and A. C. Latronico A GPR54-Activating Mutation in a Patient with Central Precocious Puberty N. Engl. J. Med., February 14, 2008; 358(7): 709 - 715. [Abstract] [Full Text] [PDF]

				Y. Zhou, W. Zhu, Z. Guo, Y. Zhao, Z. Song, and J. Xiao Effects of maternal nuclear genome on the timing of puberty in mice offspring J. Endocrinol., June 1, 2007; 193(3): 405 - 412. [Abstract] [Full Text] [PDF]

				L. S. Nield, N. Cakan, and D. Kamat A Practical Approach to Precocious Puberty Clinical Pediatrics, May 1, 2007; 46(4): 299 - 306. [PDF]

				S. R. Ojeda, A. Lomniczi, C. Mastronardi, S. Heger, C. Roth, A.-S. Parent, V. Matagne, and A. E. Mungenast Minireview: The Neuroendocrine Regulation of Puberty: Is the Time Ripe for a Systems Biology Approach? Endocrinology, March 1, 2006; 147(3): 1166 - 1174. [Abstract] [Full Text] [PDF]

				G. Teilmann, C. B. Pedersen, T. K. Jensen, N. E. Skakkebaek, and A. Juul Prevalence and Incidence of Precocious Pubertal Development in Denmark: An Epidemiologic Study Based on National Registries Pediatrics, December 1, 2005; 116(6): 1323 - 1328. [Abstract] [Full Text] [PDF]

				L. de Vries and M. Phillip Children Referred for Signs of Early Puberty Warrant Endocrine Evaluation and Follow-Up J. Clin. Endocrinol. Metab., January 1, 2005; 90(1): 593 - 593. [Full Text] [PDF]