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Estrogen-Insensitivity Syndrome (Eis) in a Female Adolescent Patient – a Case Report Publisher Pubmed



Soltani A2 ; Fatollahzadeh M2 ; Izadi P3 ; Rad ZA4 ; Tavassol ZH1 ; Pajavand H2 ; Amini M3 ; Hasaniranjbar S1
Authors
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Authors Affiliations
  1. 1. Obesity and Eating Habits Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Evidence Based Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Metabolic Diseases Research Center, Zanjan University of Medical Sciences, Zanjan, Iran

Source: Journal of Pediatric Endocrinology and Metabolism Published:2024


Abstract

Objectives: Estrogen insensitivity syndrome (EIS) is a rare genetic disorder characterized by an autosomal dominant inheritance pattern. The disease results from a pathogenic variant in the ESR1 (estrogen receptor 1) gene, leading to estrogen resistance in individuals possessing the 46, XX karyotype. The alpha receptor, which is predominant in peripheral tissues, is responsible for estrogen action. As a result, pathogenic variants in the ESR1 gene can cause various disorders, such as changes in secondary sexual characteristics, increased concentrations of estrogen and gonadotropins, and delayed bone maturation. Case presentation: Here, the case of a 13-year-old girl, with high estrogen and gonadotropin concentrations, lack of breast development, uterine growth and delayed bone age is described. The patient’s parents were related. She was found to have a homozygous pathogenic variant in the ESR1 gene located on chromosome 6q25, which interferes with estrogen signaling. Conclusions: This case supports that disruption of ESR1 causes profound estrogen resistance in females. © 2024 Walter de Gruyter GmbH. All rights reserved.