ArticleOxford medical case reports2026
Peripheral precocious puberty in a 4-month-old infant associated with an ESR1 variant: a case report.
Article in Oxford medical case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Precocious puberty (PP) refers to pubertal onset before 8 years in females and 9 years in males. We present a rare case of a 6-year and 7-month-old Jordanian girl with peripheral PP onset at 4 months of age. Clinical evaluation revealed vaginal spotting, premature thelarche, advanced bone age, and recurrent uterine bleeding requiring multiple transfusions. Imaging demonstrated a progressive cervicovaginal mass and endometrial polyps. Histopathology identified atypical hyperplasia/endometrioid intraepithelial neoplasia. Gonadotropins remained persistently suppressed, excluding central PP. Whole-exome sequencing (WES) identified a heterozygous likely-pathogenic ESR1 missense variant (NM_000125.3; c.1610A > C; p.Tyr537Ser), previously linked to estrogen-independent receptor activation in breast cancer. Tamoxifen produced partial clinical response with subsequent recurrence; the patient is now on combined letrozole-tamoxifen therapy. This case highlights the value of WES in unexplained PP and suggests that gain-of-function ESR1 variants may drive peripheral PP through receptor hypersensitivity.
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