Familial central precocious puberty suggests autosomal dominant inheritance
Abstract
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.
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MKRN3 is the most common genetic defect associated with central precocious puberty so far; families with central precocious puberty from several different ethnic groups harbour mutations in this gene.
“MKRN3 is the most common genetic defect associated with central precocious puberty so far; families with central precocious puberty from several different ethnic groups harbour mutations in this gene.52,71–76”
From Pubertal development and regulation (2016) · cites this paper as [71]
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- Authors
- de Vries, L., Kauschansky, A., Shohat, M., & Phillip, M.
- Affiliations
- Tel Aviv University (IL)
- ORCID
- Phillip, Moshe
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2004-04
- Volume
- 89
- Issue
- 4
- Pages
- 1794-1800
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2146337515
- Cited by
- 195
- References
- 26
- Citations by year
- 2026: 3 · 2025: 2 · 2024: 6 · 2023: 9 · 2022: 5 · 2021: 6 · 2020: 10 · 2019: 13 · 2018: 11 · 2017: 11 · 2016: 15 · 2015: 9 · 2014: 17 · 2013: 9 · 2012: 7
- FWCI
- 10.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Ben-Gurion University of the Negev
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- central precocious puberty, autosomal dominant inheritance, mode of inheritance, segregation analysis, incomplete penetrance, maternal age at menarche, idiopathic precocious puberty
- MeSH terms
- Adult, Aging, Body Height, Child, Diagnosis, Differential, Fathers, Female, Genes, Dominant, Humans, Israel, Male, Menarche, Mothers, Pedigree, Puberty, Precocious, Prevalence, Chromosome Segregation
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