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

Summary: Why do some girls lack puberty changes? A study found a rare gene variant causes estrogen resistance, leading to delayed development in a 13-year-old. #GeneticDisorders #WomensHealth

Soltani A² ; Fatollahzadeh M² ; Izadi P³ ; Rad ZA⁴ ; Tavassol ZH¹ ; Pajavand H² ; Amini M³ ; Hasaniranjbar S¹
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.