Highlights
- •Dysmorphology may be correlated with congenital cardiovascular defects.
- •The age for initiation and duration of GH treatment in TS are controversial.
- •Height, age, dysmorphology, estrogen use, and hearing loss may affect sexuality.
- •Proposals for the management of TS in adult life and insight into the medical complaints are provided.
- •Prenatal diagnosis allows prediction of ovarian failure and cryopreservation in selected patients.
Abstract
Objective
To describe in practical terms the clinical management in adult life of patients with
Turner syndrome.
Material & methods
Systematic review of the literature and practical issues. An evaluation of clinical
trials, meta-analysis, case reports and reviews assessing the management of different
conditions related to Turner syndrome was done using the following data sources: Medline,
PubMed (from 1966 to July 2014) and the Cochrane Controlled Clinical Trials Register,
Embase (up to July 2014).
Results
Extracted information is summarized here on karyotype, screening of malformations,
malformations debuting in adult life, final height, treatments with growth hormone,
cardiovascular risk, endocrino-metabolic and liver abnormalities, sensorineural disorders
and osteoporosis and its treatment.
Conclusions
This review provides recommendations for the management of adult patients with Turner
syndrome and insight into the associated medical complaints. A link between karyotypes
and clinical features suggests a novel hypothesis to explain the different phenotypes
and clinical abnormalities of these patients.
Keywords
To read this article in full you will need to make a payment
Purchase one-time access:
Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online accessOne-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:
Subscribe to MaturitasAlready a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
References
- Management of Turner's syndrome in adult life: case-series and systematic review.Gynecol Endocrinol. 2012; 28: 726-732
- Determinants of medical care for young women with Turner syndrome.J Clin Endocrinol Metab. 2009; 94: 3408-3413
- Turner's syndrome.N Engl J Med. 2004; 351: 1227-1238
- Metabolic and cardiovascular outcomes in a group of adult patients with Turner's syndrome under hormonal replacement therapy.Eur J Endocrinol. 2011; 164: 819-826
- The patient with Turner syndrome: puberty and medical management concerns.Fertil Steril. 2012; 98: 780-786
- The impact and management of Turner's syndrome in adult life.Best Pract Res Clin Endocrinol Metab. 2002; 16: 243-261
- Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene location.J Med Genet. 2001; 38: 591-598
- Comparative cytogenetic analysis in two tissues with different lineage in Turner's syndrome patients: correlation with phenotype.Gynecol Endocrinol. 2014; 30 (Available from: http://www.ncbi.nlm.nih.gov/pubmed/24400598): 282-286
- Growth hormone plus childhood low-dose estrogen in Turner's syndrome.N Engl J Med. 2011; 364: 1230-1242
- Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function.Am J Obstet Gynecol. 2013; 208 (Available from: http://dx.doi.org/10.1016/j.ajog.2013.01.011): 484.e1-484.e6
- Hearing loss in adult women with Turner's syndrome and other congenital hypogonadisms.Gynecol Endocrinol. 2014; 30 (Available from: http://www.ncbi.nlm.nih.gov/pubmed/24256370): 111-116
- Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with turner syndrome.Horm Res Paediatr. 2011; 75: 38-46
- Approach to the patient with Turner syndrome.J Clin Endocrinol Metab. 2010; 95 (Available from: http://dx.doi.org/10.1210/jc.2009-0926 and http://www.ncbi.nlm.nih.gov/pubmed/20375216): 1487-1495
- Turner's syndrome.Lancet. 2001; : 309-314
- Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.J Clin Endocrinol Metab. 2000; 85: 2927-2930
- Fracture risk and bone mineral density in Turner syndrome.Rev Endocr Metab Disord. 2008; 9: 145-151
- Turner's syndrome in adulthood.Endocr Rev. 2002; 23 (Available from: http://www.ncbi.nlm.nih.gov/pubmed/11844747): 120-140
- Management of Turner's syndrome in adult life: case-series and systematic review.Gynecol Endocrinol. 2012; 28 (Available from: http://www.ncbi.nlm.nih.gov/pubmed/22316390): 726-732
- Follicle-stimulating hormone does not directly regulate bone mass in human beings: evidence from nature.Fertil Steril. 2008; 90 (Available from: http://www.ncbi.nlm.nih.gov/pubmed/18191857): 2211-2216
- Cognition and the sex chromosomes: studies in Turner syndrome.Horm Res. 2006; 65: 47-56
- Outcomes of spontaneous and assisted pregnancies in Turner syndrome: The U.S. National Institutes of Health experience.Fertil Steril. 2011; 95: 2251-2256
- Congenital cardiovascular disease in Turner syndrome.Congenit Heart Dis. 2008; 3: 2-15
- Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population.AJR Am J Roentgenol. 2011; 196: 454-460
- Optimising management in Turner syndrome: from infancy to adult transfer.Arch Dis Child. 2006; 91: 513-520
- Autoimmune stigmata in Turner syndrome: when lacks an X chromosome.J Autoimmun. 2009; 33: 25-30
- How do you monitor the patient with Turner's syndrome in adulthood?.Clin Endocrinol (Oxf). 2010; 73: 696-699
- Turner syndrome.Child Adolesc Psychiatr Clin N Am. 2008; 16: 1-13
- Turner's syndrome and other forms of congenital hypogonadism impair quality of life and sexual function.Am J Obstet Gynecol. 2013; 208 (Available from: http://www.ncbi.nlm.nih.gov/pubmed/23313313): 484.e1-484.e6
- Turner syndrome in childhood and adolescence.Expert Rev Endocrinol Metab. 2008; 3 (Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2752892&tool=pmcentrez&rendertype=Abstract): 771-775
Article info
Publication history
Published online: September 23, 2014
Accepted:
August 19,
2014
Received:
August 16,
2014
Identification
Copyright
© 2014 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.