Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study

Frontiers in Pediatrics

article

Sarah Winter¹  Adélaïde Durand¹  Raja Brauner¹ 

[1] Fondation Ophtalmologique Adolphe de Rothschild and Université Paris Descartes

关键词: central precocious puberty;    chromosomal duplication;    early puberty;    epilepsy;    hypothalamic-pituitary-gonadal axis;    precocious puberty;    psychomotor delay;    psychiatric disorders;   

DOI  :  10.3389/fped.2019.00035

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Background: Precocious and early puberty are reported findings in children with pre-existing medical conditions including certain syndromes. Series pertaining to such situations are limited. Methods: A retrospective, single-center study was conducted on children with central precocious puberty (onset before the age of 8 years in girls and 9 years in boys) or early puberty (onset between 8 and 9 years in girls and between 9 and 10.5 years in boys) diagnosed on the background of a known pre-existing chronic significant medical condition. Patients with a CNS tumor and those exposed to cranial irradiation were excluded. Results: Precocious puberty was diagnosed in 13 patients and early puberty in 12. Mean age at onset of puberty was 6.65 ± 2.3 years in girls ( n = 15) and 9.4 ± 0.84 years in boys ( n = 10). The most common disorders were psychomotor delay ( n = 12), psychiatric disorders ( n = 7) and/or epilepsy ( n = 5). Precocious or early puberty was among the symptoms experienced by patients with a variety of syndromes including lipofuscinosis (2 siblings), Dravet syndrome and Silver-Russel syndrome. Pituitary stalk interruption with agenesis of olfactory bulbs and optic nerve atrophy was found on imaging in one patient who presented with blindness, epilepsy, and autism spectrum disorder. The other diseases associated with precocious or early puberty are adrenocorticotropic deficiency, dyspraxia and bone abnormalities, glomerulopathy with complete renal failure, and repeated intra-fetal deaths in the mother. Karyotype analysis revealed chromosomal duplication (chromosome 15 in 2 cases; chromosomes 17 and 11 in one case each) in 4 of 8 patients evaluated. Conclusions: Data from patients with complex disease who experience precocious or early puberty may provide clues regarding the genetic determinants of pubertal development.

【 授权许可】

CC BY