Year: 2025
Type: article
Study design: Case Report
Abstract: Objectives: Hypothalamic hamartoma (HH) is an important cause of central precocious puberty (CPP) in young children but is rarely described in infants. Interpretation of laboratory data could be difficult because gonadotropins and estradiol levels often overlap in healthy infants with mini-puberty and children with HH. Extremely elevated estradiol levels are mostly described in girls with peripheral precocious puberty. Case presentation: We present a 5.5-month-old girl with vaginal bleeding, significantly elevated estradiol levels (up to 3,974 pmol/L), elevated gonadotropins, and right ovarian cyst. Laboratory and radiologic evaluation revealed the HH as a cause of CPP. Immediately after the start of treatment with depot gonadotropin-releasing hormone analogue, age-appropriate undetectable levels of estradiol were achieved, with ovarian cyst regression and cessation of pubertal changes. Conclusion: If observed in the period of mini-puberty, high levels of estradiol accompanied by unsuppressed gonadotropins can complicate the discrimination between central and peripheral precocious puberty. This challenge emerges particularly due to the absence of the negative feedback mechanism in children with HH. This is the first report identifying extremely high estradiol levels as part of the phenotypic spectrum of HH in infants.
Source: Frontiers in Endocrinology
Institutions: University Hospital Centre Zagreb, University of Zagreb
Language: English
Subfield: Reproductive Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W4414523445