Peripheral precocious puberty in a 4-month-old infant associated with an ESR1 variant: a case report.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

Oxford Medical Case Reports Pub Date : 2026-10-17 eCollection Date: 2026-10-01 DOI:10.1093/omcr/omag194

Fadi Ayyash, Noor Alrawajfeh, Asmaa Monther Al Quraan, Hadeel Othman Alqurieny, Abdelrazaq Ahmad Alyasin, Juana Hani AbuRahmeh, Nama' Abdullah Bany Amer, Sura Al-Rawabdeh, Waseem Al Mefleh, Sondos Harahshih

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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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4个月大婴儿外周血性早熟与ESR1变异相关：一例报告

性早熟（PP）是指女性早于8岁、男性早于9岁的青春期发育。我们提出一个罕见的病例6岁和7个月大的约旦女孩周围PP发作在4个月大。临床评估显示阴道斑点，卵巢过早，骨质老化，反复子宫出血，需要多次输血。影像学表现为进展性宫颈阴道肿块及子宫内膜息肉。组织病理学鉴定为不典型增生/子宫内膜样上皮内瘤变。全外显子组测序（WES）鉴定出一种杂合的可能致病性ESR1错义变异（NM_000125.3; C . 1610a > C; p.Tyr537Ser），该变异先前与乳腺癌中雌激素非依赖性受体激活有关。他莫昔芬产生部分临床反应，随后复发；该患者目前正在接受来曲唑-他莫昔芬联合治疗。该病例强调了WES在不明原因PP中的价值，并提示ESR1的功能获得变异可能通过受体超敏性驱动外周PP。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.90

自引率

0.00%

发文量

125

审稿时长

19 weeks

期刊介绍： Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.