The association between precocious or early puberty and a wide range of preexisting medical conditions could provide additional insight into factors contributing to premature pubertal onset, reports a study published in Frontiers in Pediatrics.

The onset of normal puberty is triggered by a complex interaction of factors. Precocious/early puberty often has a maternal mode of inheritance and has been reported in children with a variety of preexisting medical conditions, including certain syndromes. As data reporting on the relationship between pubertal onset and preexisting medical conditions are limited, in this study researchers summarized clinical, laboratory, imaging, and cytogenetic data from 25 individuals with precocious/early puberty and a known preexisting condition.

A retrospective, single-center study was conducted with a cohort that had either central precocious puberty, defined as pubertal onset before age 8 years in girls and 9 years in boys, or early puberty, defined as an onset between 8 and 9 years in girls and between 9 and 10.5 years in boys. All children participating had already been diagnosed with a chronic, significant medical condition.

Overall, neurologic and/or psychological disorders affected most of the patients in the study. The most common comorbid disorders within this cohort were psychomotor delay (n = 12), psychiatric disorders (n = 7), and/or epilepsy (n = 5). Precocious/early puberty was experienced by patients diagnosed with various syndromes, including lipofuscinosis (2 siblings), Dravet syndrome, and Russell-Silver syndrome. Other associated conditions included adrenocorticotropic deficiency, dyspraxia and bone abnormalities, glomerulopathy with complete renal failure, and repeated intrafetal deaths in the patient’s mother. An analysis of karyotypes showed chromosomal duplication (chromosome 15 in 2 cases; chromosomes 17 and 11 in 1 case each) in 4 of 8 patients with psychomotor delay who were evaluated.

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“These data suggested that performing a karyotype analysis should be recommended for patients with precocious or early puberty and associated disorders without any obvious etiology,” wrote the researchers. “Additional studies are needed to investigate the mechanisms through which precocious or early puberty is triggered in patients with complex medical histories.”

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Reference

Winter S, Durand A, Brauner R. Precocious and early central puberty in children with pre-existing medical conditions: a single center study. Front Pediatr. 2019;7:35.