Turner Syndrome
Abstract
:1. Introduction
2. Etiology
2.1. Chromosomal Aberrations in TS
2.2. Contributions of X-Inactivation to the TS Phenotype
2.3. Role of Epigenetics in TS
3. Clinical Presentation
4. Endocrine-Related Manifestations of Turner Syndrome
4.1. Growth and Short Stature
4.2. Ovarian Insufficiency
4.3. Autoimmune Thyroiditis
4.4. Diabetes and Metabolic Syndrome
5. Diagnosis—Karyotyping and Beyond
6. Treatment and Management
6.1. Growth Hormone Therapy
6.2. Estrogen Replacement
6.3. Fertility Preservation
7. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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TS Karyotype | Structural Abnormalities | Mechanism |
---|---|---|
45,X | Complete loss of second sex chromosome | Monosomy X |
45,X/46,XY | some cells only have one X chromosome whereas others have one X and one Y chromosome | Mosaicism |
45,X/46,XX | some cells only have one X chromosome whereas others have two X chromosomes | Mosaicism |
46,X,del(X) (p11.4) | Deletion in the short arm at of one of the X chromosomes | Deletion |
46,X,r(X) | Ring-like structure with ends of a chromosome fused | Telomeric aberration resulting in ring chromosome |
46,X,i(Xq) | Duplication of the long arm and loss of short arm of one of the X chromosomes | Isochromosome |
Associated Features and Conditions in TS | |
---|---|
Characteristic facial and physical features | Hypertelorism, upward slanting of palpebral fissures, epicanthal folds, flat nasal bridge, low set ears, high arched palate, low posterior hairline, webbed neck, broad chest with widely spaced nipples |
Cardiovascular | Bicuspid aortic arch, coarctation of the aorta, aortic dilatation or aneurysm Hypertension |
Endocrine and metabolic | Autoimmune thyroiditis, glucose intolerance/diabetes mellitus, dyslipidemia, decreased bone mineral density |
Gynecologic | Absent or delayed puberty development, premature ovarian failure, infertility |
Skeletal | Short stature, delayed bone maturation, spine deformities (scoliosis, kyphosis), angular deformity of limbs (cubitus valgus, genu valgum, madelung deformity) |
Gastrointestinal | Celiac disease, transaminitis, inflammatory bowel disease |
Renal | Horseshoe kidney, renal ectopia, abnormal position or duplication of ureters or vessels |
Neurocognitive and behavioral | Impaired visuospatial and perceptive abilities, deficits in non-verbal memory and executive function Increased risk for attention-deficit/hyperactivity disorder |
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Clemente, E.G.; Penukonda, S.K.; Doan, T.; Sullivan, B.; Kanungo, S. Turner Syndrome. Endocrines 2022, 3, 240-254. https://doi.org/10.3390/endocrines3020022
Clemente EG, Penukonda SK, Doan T, Sullivan B, Kanungo S. Turner Syndrome. Endocrines. 2022; 3(2):240-254. https://doi.org/10.3390/endocrines3020022
Chicago/Turabian StyleClemente, Ethel Gonzales, Sasi Kiran Penukonda, Tam Doan, Brittany Sullivan, and Shibani Kanungo. 2022. "Turner Syndrome" Endocrines 3, no. 2: 240-254. https://doi.org/10.3390/endocrines3020022
APA StyleClemente, E. G., Penukonda, S. K., Doan, T., Sullivan, B., & Kanungo, S. (2022). Turner Syndrome. Endocrines, 3(2), 240-254. https://doi.org/10.3390/endocrines3020022