Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).

The Journal of clinical endocrinology and metabolism - 1 Oct 2018

Lang-Muritano Mariarosaria, Sproll Patrick, Wyss Sascha, Kolly Anne, Hürlimann Renate, Konrad Daniel, Biason-Lauber Anna

Abstract excerpt

Context: Estrogen resistance due to mutations in the estrogen receptor α gene (ESR1) has been described in men and women and is characterized by osteoporosis, delayed bone age and continuous growth in adulthood, and delayed puberty and multiple ovarian cysts in women. Although mutations in the estrogen receptor β gene ESR2 were found in 46, XY patients with differences of sex development, no genetic variants of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Age of Onset

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Estrogen Receptor beta

Share to Exome Sequencing

Share to Ovarian Diseases

Share to Prognosis

Share to Puberty, Delayed

Share to Sexual Maturation

Source

Identifiers

PMID: 30113650
DOI: 10.1210/jc.2018-00769

Genes

ESR2
ESR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).PMID 30113650Read ↗

Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation.Semantic proximity Read ↗

Estrogen Receptor α Inactivation in 2 Sisters: Different Phenotypic Severities for the Same Pathogenic Variant.Semantic proximity Read ↗

ESR2 regulates granulosa cell genes essential for follicle maturation and ovulation.Semantic proximity Read ↗

Aromatase and estrogen receptor α deficiency.Semantic proximity Read ↗

Polymorphisms of estrogen receptor beta gene are associated with hypospadias.Semantic proximity Read ↗

Oncogenic Potential and Molecular Disruptions of ESR2 Coding and UTRs Variants: An Integrative In Silico AnalysisSemantic proximity Read ↗

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man.Semantic proximity Read ↗

Estrogen receptor mutations.Semantic proximity Read ↗

ESR1 Mutations Associated With Estrogen Insensitivity Syndrome Change Conformation of Ligand-Receptor Complex and Altered Transcriptome ProfileSemantic proximity Read ↗

Identification of novel transcript variants of estrogen receptor α, β and progesterone receptor gene in human endometrium.Semantic proximity Read ↗

Aromatase deficiency and estrogen resistance: from molecular genetics to clinic.Semantic proximity Read ↗

Risk factors for hypospadias in the estrogen receptor 2 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.