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.
Related Resources & Content
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