Treatments & Interventions
Research Evidence
Peer-reviewed studies linked via MeSH term "Dysgenesis, Gonadal" from the MEDLINE/PubMed database.
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Germ Cell Tumors in Dysgenetic Gonads.
[object Object], [object Object] · Clinics (Sao Paulo) · 2019
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
[object Object], [object Object], [object Object] et al. · J Med Genet · 2008
Genetic, Epigenetic, and Non-Genetic Factors in Testicular Dysgenesis Syndrome: A Narrative Review.
[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2025
PMID: 41595460Review
NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
[object Object], [object Object], [object Object] · Medicine (Baltimore) · 2023
Environmental Impacts on Male Reproductive Development: Lessons from Experimental Models.
[object Object], [object Object], [object Object] et al. · Horm Res Paediatr · 2023
PMID: 34607330Review
Environmental oestrogens disrupt testicular descent and damage male reproductive health: Mechanistic insight.
[object Object], [object Object], [object Object] et al. · J Cell Mol Med · 2023
A review of endocrine disrupting chemical(EDC) regulation on testicular dysgenesis syndrome.
[object Object], [object Object], [object Object] et al. · Asian J Surg · 2023
PMID: 36526479Review
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
[object Object], [object Object], [object Object] et al. · Pediatr Nephrol · 2022
Pathogenic Variants in MAP3K1 Cause 46,XY Gonadal Dysgenesis: A Review.
[object Object] · Sex Dev · 2022
PMID: 35290982Review
DMRT1: An Ancient Sexual Regulator Required for Human Gonadogenesis.
[object Object], [object Object] · Sex Dev · 2022
Search all PubMed articles for Turner syndrome
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of forearm bone
Very frequent (80-99%)HP:0040072
Abnormality of the ovary
Very frequent (80-99%)HP:0000137
Aplasia/Hypoplasia of the nipples
Very frequent (80-99%)HP:0006709
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed puberty
Very frequent (80-99%)HP:0000823
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Female infertility
Very frequent (80-99%)HP:0008222
Gonadotropin excess
Very frequent (80-99%)HP:0000837
Growth delay as children
Very frequent (80-99%)HP:0008897
High urinary gonadotropin level
Very frequent (80-99%)HP:0003492
Increased upper to lower segment ratio
Very frequent (80-99%)HP:0012774
Intrauterine growth retardation, IUGR
Very frequent (80-99%)HP:0001511
Osteopenia
Very frequent (80-99%)HP:0000938
Osteoporosis
Very frequent (80-99%)HP:0000939
Outward turned elbows
Very frequent (80-99%)HP:0002967
Premature menopause
Very frequent (80-99%)HP:0008209
Pure gonadal dysgenesis
Very frequent (80-99%)HP:0000133
Short neck
Very frequent (80-99%)HP:0000470
Short sternum
Very frequent (80-99%)HP:0000879
Very poor growth
Very frequent (80-99%)HP:0001510
Wide thorax
Very frequent (80-99%)HP:0100625
Wide-spaced nipples
Very frequent (80-99%)HP:0006610
Abnormal dermatoglyphics
Frequent (30-79%)HP:0007477
Abnormal nonverbal communicative behavior
Frequent (30-79%)HP:0000758
Aortic arch aneurysm
Frequent (30-79%)HP:0005113
Behavioral changes
Frequent (30-79%)HP:0000708
Broad neck
Frequent (30-79%)HP:0000475
Dermatoglyphic ridges abnormal
Frequent (30-79%)HP:0005689
Excessive, persistent worry and fear
Frequent (30-79%)HP:0000739
Failure to thrive in first year of life
Frequent (30-79%)HP:0001531
Related Conditions
Karyotype 46, X iso (Xq)(child)
Karyotype 46, X with abnormal sex chromosome except iso (Xq)(child)
Turner's phenotype - ring chromosome karyotype(child)
Turner's phenotype, karyotype normal(child)
Turner's phenotype, partial X deletion karyotype(child)
45XO - Turner's syndrome(child)
Mosaic Turner syndrome(child)
Sex chromosome abnormality - female phenotype(parent)
Anomaly of chromosome X(parent)
Quick Facts
- SNOMED CT
- 38804009
- UMLS CUI
- C0018051
- Fully Specified Name
- Turner syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 1
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.