Estrogen-insensitivity syndrome (EIS) in a female adolescent patient – a case report
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Akbar Soltani
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.
Funding source: Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences
Award Identifier / Grant number: 1401-3-221-62409
Acknowledgments
The authors are grateful to Dr. Ahmad Ebrahimi and GENIA medical genetics laboratory, Tehran, Iran. And we extend our gratitude to the patient and her family.
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Research ethics: This research study conformed to the Declaration of Helsinki principles and approved by Ethical Committee of Endocrinology and Metabolism Research Institute of Tehran University of Medical Sciences (ID number: IR.TUMS.EMRI.REC.1401.045).
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Informed consent: Informed written consent from the patient and her parents was obtained prior to inclusion in the study.
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Author contributions: Investigation and treatment – AS, SHR and MF; genetic analysis – PI, ZHT and MA; data curation – ZA; writing – original draft preparation – ZHT and HP; writing – review and editing – SHR. All authors have read and agreed to the published version of the manuscript.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: Authors state no conflict of interest.
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Research funding: This study was funded by the Endocrinology and Metabolism Research Institute, Tehran University of Medical Sciences, Tehran, Iran (Number: 1401-3-221-62409).
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Data availability: The original contributions presented in the study are included in the article; further inquiries can be directed to the corresponding author.
References
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© 2024 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
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- Letters to the Editor
- Comment on “Diagnostic utility of the average peak LH levels measured during GnRH stimulation test”
- Author’s reply “Comment on diagnostic utility of the average peak LH levels measured during GnRH stimulation test”
- Case Reports
- Estrogen-insensitivity syndrome (EIS) in a female adolescent patient – a case report
- The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report
- Homozygous mutation of KISS1 receptor (KISS1R) gene identified in a Chinese patient with congenital hypogonadotropic hypogonadism (CHH): case report and literature review
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Artikel in diesem Heft
- Frontmatter
- Review
- Selecting optimal progestational agents either alone or in combination in common pediatric endocrine settings: challenges of unmet needs
- Original Articles
- Comparison of the effectiveness of prepubertal growth hormone treatment on height and predicted adult height in children with short stature born small for gestational age vs. with a growth hormone deficiency
- Expanded phenotypic spectrum in MODY 5 patients with 17q12 deletion syndrome: experience from an Indian tertiary care hospital
- Endocrine sequelae after pediatric craniopharyngioma treatment: a single-center retrospective cohort study
- Premature ovarian insufficiency in pediatric cancer patients: a 10 year Rady Children’s Hospital experience
- Alterations in optical coherence tomography and optical coherence tomography angiography findings in children with partial biotinidase deficiency
- Slow growth and short stature in children with attention deficit hyperactivity disorder (ADHD): a retrospective study of 493 children who underwent growth hormone provocation testing at one tertiary paediatric endocrine centre
- Short Communication
- Assessment of diabetes-specific knowledge and its determinants among children with type 1 diabetes mellitus and their primary caregivers: Experience from a tertiary care center in North India
- Letters to the Editor
- Comment on “Diagnostic utility of the average peak LH levels measured during GnRH stimulation test”
- Author’s reply “Comment on diagnostic utility of the average peak LH levels measured during GnRH stimulation test”
- Case Reports
- Estrogen-insensitivity syndrome (EIS) in a female adolescent patient – a case report
- The complexities of managing a newborn with 6q24 transient neonatal diabetes mellitus: a case report
- Homozygous mutation of KISS1 receptor (KISS1R) gene identified in a Chinese patient with congenital hypogonadotropic hypogonadism (CHH): case report and literature review
- Selpercatinib prior to radioactive iodine for pediatric papillary thyroid carcinoma
