Clinical Scorecard: Estrogen-related changes beginning at 4 months: a case report
At a Glance
Category
Detail
Condition
Estrogen-related changes beginning in infancy, with premature breast development, recurrent vaginal bleeding, and endometrial abnormalities
Key Mechanisms
Whole-exome sequencing identified a likely pathogenic ESR1 p.Tyr537Ser variant, previously associated with estrogen-independent receptor activation in breast cancer. The authors suspected excessive estrogen receptor activity but did not confirm causation.
Target Population
A girl whose estrogen-related changes began at 4 months of age and who was evaluated at 6 years and 7 months
Care Setting
Pediatric evaluation of premature breast development, recurrent vaginal bleeding, accelerated growth, and advanced skeletal maturation
Key Highlights
The patient had premature breast development, recurrent vaginal bleeding, accelerated growth, and bone age approaching 9 years by 2025.
A cervicovaginal mass measured 82 × 77 × 46 mm; biopsies showed endometrial polyps and atypical endometrial hyperplasia/endometrioid intraepithelial neoplasia.
Luteinizing hormone was suppressed at 0.1 IU/L, and whole-exome sequencing identified a likely pathogenic ESR1 p.Tyr537Ser variant.
Letrozole initially failed to control bleeding; tamoxifen temporarily improved symptoms and reduced the mass before recurrence was documented by February 2025.
The patient subsequently received combined letrozole–tamoxifen therapy; long-term malignancy risk is unknown.
Guideline-Based Recommendations
Diagnosis
Management
Monitoring & Follow-up
Risks
Patient & Prescribing Data
One girl with estrogen-related changes beginning at 4 months of age; evaluated at 6 years and 7 months.
Letrozole initially failed to control bleeding. Tamoxifen temporarily improved symptoms and reduced the mass; recurrence was documented by February 2025, after which combined letrozole–tamoxifen therapy was given.
Clinical Best Practices
The case report describes evaluation using hormonal testing, skeletal maturation assessment, imaging, and tissue biopsy.
Luteinizing hormone was suppressed at 0.1 IU/L; the source does not state that this ruled out central precocious puberty.
The authors suspected excessive estrogen receptor activity but did not confirm causation.
