The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Adolescent
Basic Helix-Loop-Helix Transcription Factors
/ genetics
Female
Genetic Diseases, X-Linked
/ complications
Genetic Variation
Gonadal Dysgenesis
/ complications
Homeodomain Proteins
/ genetics
Humans
Primary Ovarian Insufficiency
/ complications
Steroidogenic Factor 1
/ genetics
Transcription Factors
/ genetics
FIGLA gene
NOBOX gene
NR5A1 gene
antimullerian hormone (AMH)
fertility
gene variants
gonadal dysgenesis (GD)
primary ovarian insufficiency (POI)
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2020
2020
Historique:
received:
05
03
2020
accepted:
25
08
2020
entrez:
26
10
2020
pubmed:
27
10
2020
medline:
27
5
2021
Statut:
epublish
Résumé
Non-syndromic primary ovarian insufficiency due to ovarian dysgenesis in 46,XX patients is an uncommon finding in the general population, even though several monogenic variants have been reported as causative factors. Here, we describe a 15-year-old patient diagnosed with gonadal dysgenesis possibly due to the interaction of three potentially pathogenic variants of genes involved in ovarian maturation, namely
Identifiants
pubmed: 33101191
doi: 10.3389/fendo.2020.540683
pmc: PMC7545356
doi:
Substances chimiques
Basic Helix-Loop-Helix Transcription Factors
0
FIGLA protein, human
0
Homeodomain Proteins
0
NOBOX protein, human
0
NR5A1 protein, human
0
Steroidogenic Factor 1
0
Transcription Factors
0
Types de publication
Case Reports
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
540683Informations de copyright
Copyright © 2020 Cattoni, Spano, Tulone, Boneschi, Masera, Maitz, Di Blasio, Persani, Guizzardi and Rossetti.
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