CASE REPORT article
Front. Endocrinol.
Sec. Pediatric Endocrinology
Volume 16 - 2025 | doi: 10.3389/fendo.2025.1598734
Case report: Exaggerated estradiol secretion in an infant with hypothalamic hamartoma
Provisionally accepted
- 1University Hospital Centre Zagreb, Zagreb, Croatia
- 2School of Medicine, University of Zagreb, Zagreb, Croatia
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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 months-old girl with vaginal bleeding, significantly elevated estradiol levels (up to 3974 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.
Keywords: Hypothalamic hamartoma1, Central precocious puberty2, Estradio3, Mini-puberty4, Case report5
Received: 23 Mar 2025; Accepted: 09 Sep 2025.
Copyright: © 2025 Vinkovic, Braovac, Dumic Kubat, Jovanovic, Banovic and Krnic. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Maja Vinkovic, University Hospital Centre Zagreb, Zagreb, Croatia
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