Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center
- PMID: 33156813
- DOI: 10.1530/EJE-20-0862
Prevalence and clinical characteristics of isolated forms of central precocious puberty: a cohort study at a single academic center
Abstract
Objective: Isolated central precocious puberty (CPP) includes sporadic, familial and adoption-related forms, and the characterization of its etiology is challenging. This study investigated the prevalence and clinical characteristics of isolated CPP.
Design and methods: This observational cohort study included all patients (n = 395) with CPP included in the database of a single academic pediatric care center over a period of 11.5 years.
Results: In total, 332 of the 395 patients (84%) had isolated forms of CPP; the proportion of male patients was lower in this group than for non-isolated CPP (4 vs 33%, P < 0.0001). These patients had sporadic (n = 228, 68.5%), familial (n = 82, 25%) or adoption-related (n = 22, 6.5%) forms. Clinical characteristics at diagnosis were similar between groups, but girls with sporadic CPP were older at referral than those with familial or adoption-related CPP (P < 0.02), and birth weight SDS was lower in adopted patients than in those from the sporadic and familial groups (P < 0.01). In the 72 families containing patients with familial forms, both recessive and dominant transmissions were observed between first-degree relatives. Potential maternal or paternal transmission was identified in two-thirds of the studied families, in similar proportions. An autosomal dominant mode of transmission with low penetrance was suggested by the high proportion of affected parents (33 of the 72 families, 46%). Clinical presentation was similar whatever the mode of inheritance.
Conclusion: These findings highlight the need for careful monitoring of the various forms of CPP. Future studies should explore pathophysiological mechanisms, particularly for familial forms.
Similar articles
-
Clinical and Genetic Characterization of Familial Central Precocious Puberty.J Clin Endocrinol Metab. 2023 Jun 16;108(7):1758-1767. doi: 10.1210/clinem/dgac763. J Clin Endocrinol Metab. 2023. PMID: 36611250
-
Prevalence of cranial MRI findings in girls with central precocious puberty: a systematic review and meta-analysis.J Pediatr Endocrinol Metab. 2018 Jul 26;31(7):701-710. doi: 10.1515/jpem-2018-0052. J Pediatr Endocrinol Metab. 2018. PMID: 29902155 Review.
-
Familial early puberty: presentation and inheritance pattern in 139 families.BMC Endocr Disord. 2016 Sep 13;16(1):50. doi: 10.1186/s12902-016-0130-x. BMC Endocr Disord. 2016. PMID: 27624871 Free PMC article.
-
Familial central precocious puberty suggests autosomal dominant inheritance.J Clin Endocrinol Metab. 2004 Apr;89(4):1794-800. doi: 10.1210/jc.2003-030361. J Clin Endocrinol Metab. 2004. PMID: 15070947
-
Precocious puberty.Indian J Pediatr. 1997 Mar-Apr;64(2):165-75. doi: 10.1007/BF02752439. Indian J Pediatr. 1997. PMID: 10771833 Review.
Cited by
-
Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination.J Clin Endocrinol Metab. 2023 Jun 16;108(7):1646-1656. doi: 10.1210/clinem/dgad151. J Clin Endocrinol Metab. 2023. PMID: 36916482 Free PMC article.
-
Taming Idiopathic Central Precocious Puberty: High Frequency of Imprinting Disorders in Familial Forms.J Clin Endocrinol Metab. 2023 Jul 14;108(8):e636-e637. doi: 10.1210/clinem/dgad091. J Clin Endocrinol Metab. 2023. PMID: 36794430 Free PMC article. No abstract available.
-
Effects of half-dose spiomet treatment in girls with early puberty and accelerated bone maturation: a multicenter, randomized, placebo-controlled study protocol.Trials. 2023 Jan 24;24(1):56. doi: 10.1186/s13063-022-07050-w. Trials. 2023. PMID: 36694227 Free PMC article.
-
Pubertal timing in children with Silver Russell syndrome compared to those born small for gestational age.Front Endocrinol (Lausanne). 2022 Aug 24;13:975511. doi: 10.3389/fendo.2022.975511. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36093089 Free PMC article.
-
Sedentary lifestyle and precocious puberty in girls during the COVID-19 pandemic: an Italian experience.Endocr Connect. 2022 Feb 14;11(2):e210650. doi: 10.1530/EC-21-0650. Endocr Connect. 2022. PMID: 35029543 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical