Turner Syndrome (Turner's Syndrome)

A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.

Also Known As:

Turner's Syndrome; Bonnevie Ullrich Syndrome; Monosomy X; Status Bonnevie-Ullrich; Ullrich-Turner Syndrome; Status Bonnevie Ullrich; Syndrome, Ullrich-Turner; Turners Syndrome; Ullrich Turner Syndrome; XO Gonadal Dysgenesis; Bonnevie-Ullrich Syndrome; Gonadal Dysgenesis, 45,X; Gonadal Dysgenesis, XO

Networked: 1740 relevant articles (50 outcomes, 244 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Aortic Coarctation
2.	Chronic Kidney Failure (Chronic Renal Failure)
3.	Chronic Renal Insufficiency
4.	Aneuploidy (Aneuploid)
5.	Prader-Willi Syndrome (Syndrome, Prader-Willi)

Experts

1.	Gravholt, Claus Højbjerg: 21 articles (01/2022 - 01/2002)
2.	Gravholt, Claus H: 16 articles (01/2020 - 01/2009)
3.	Ranke, Michael B: 16 articles (06/2015 - 01/2004)
4.	Ross, Judith L: 15 articles (01/2021 - 01/2005)
5.	de Muinck Keizer-Schrama, Sabine M P F: 14 articles (10/2014 - 03/2003)
6.	Sas, Theo C J: 12 articles (01/2018 - 12/2002)
7.	Bondy, Carolyn A: 12 articles (01/2015 - 09/2003)
8.	Quigley, Charmian A: 11 articles (01/2021 - 05/2002)
9.	Wit, Jan M: 11 articles (01/2019 - 03/2010)
10.	Davenport, Marsha L: 10 articles (01/2021 - 03/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Turner Syndrome:

1.	Growth Hormone (Somatotropin)IBA 09/01/1999 - "The efficacy of long-term growth hormone treatment and the optimal treatment modalities in Turner's syndrome are still controversial. " 04/01/1996 - "Since growth hormone is effective in increasing the height of girls with Turner's syndrome, it is important to dispose of growth and bone maturation curves in a large number of untreated patients. " 01/01/2021 - "Treatment with growth hormone (GH) is considered effective in improving adult height (AH) in Turner syndrome (TS). " 11/01/2015 - "The aim of this study was the evaluation of Turner syndrome inside the Albanian population, its clinical, cytological and genetic characteristics, the accompanying pathologies, and the efficacy of the treatment with the growth hormone. " 11/01/2015 - "Turner syndrome in Albania and the efficacy of its treatment with growth hormone."
2.	Oxandrolone (Anavar)FDA LinkGeneric 07/02/1982 - "[Improvement in the longitudinal growth in Ullrich-Turner syndrome with oxandrolone. " 01/01/2021 - "Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial." 01/01/2015 - "Eligible trials were identified by a literature search using the terms: Turner syndrome, oxandrolone. " 04/14/2011 - "Effect of oxandrolone and timing of pubertal induction on final height in Turner's syndrome: randomised, double blind, placebo controlled trial." 03/01/2015 - "Long-term effects of oxandrolone treatment in childhood on neurocognition, quality of life and social-emotional functioning in young adults with Turner syndrome."
3.	Human Growth Hormone (Saizen)FDA LinkGeneric 01/01/1993 - "Recombinant human growth hormone (GH) is effective in promoting growth velocity in subjects with Turner syndrome. " 01/01/1993 - "Safety and efficacy of human growth hormone treatment in girls with Turner syndrome." 01/01/2021 - "Safety and Effectiveness of Recombinant Human Growth Hormone in Children with Turner Syndrome: Data from the PATRO Children Study." 01/01/2019 - "This study aimed to evaluate final adult height (AH) after recombinant human growth hormone (GH) treatment of girls with Turner syndrome (TS) and to elucidate the predicting factors for their growth response. " 04/01/2018 - "This study sought to determine the effect of the recombinant human growth hormone (rhGH) treatment of Turner syndrome (TS) on height outcome. "
4.	Glucose (Dextrose)FDA LinkGeneric 07/01/2005 - "The oral glucose tolerance test is superior to the fasting and postprandial plasma glucose test for the early detection of abnormalities of carbohydrate metabolism in patients with Turner syndrome." 03/01/2017 - "The Influence of GH Treatment on Glucose Homeostasis in Girls With Turner Syndrome: A 7-Year Study." 01/01/2015 - "The studies indicate the complex etiology of abnormal glucose metabolism in the Turner syndrome (TS). " 01/01/1993 - "Results of an ongoing trial in the FRG, from which 2 years' data on glucose metabolism (as assessed by serial OGTTs) of 72 patients with Turner syndrome are available, indicate that glucose homoeostasis is maintained at the expense of an increase in insulin secretion, which is time- and dose-dependent. " 12/22/2020 - "PPARGC1A promoter DNA-methylation level and glucose metabolism in Ecuadorian women with Turner syndrome."
5.	Estrogens (Estrogen)FDA Link 02/27/2017 - "This is the first study of patients with Turner syndrome where estrogen was administered initially in an ultra-low dose and then increased gradually. " 02/01/2012 - "We conducted this study to find the adequate initial estrogen dose for adolescent girls with Turner Syndrome (TS). " 11/01/2007 - "Our objective was to study the metabolic effects of oral vs. TD estrogen in GH-treated girls with Turner syndrome. " 11/01/2004 - "Turner Syndrome (TS) provides the opportunity to study the effect of the lack of estrogen on neurocognitive development. " 03/01/2003 - "This study shows final height (FH) in 60 girls with Turner syndrome treated in a randomized dose-response trial, combining GH treatment with low dose estrogens at a relatively young age. "
6.	AndrogensIBA 11/01/2009 - "To study androgen treatment effects on arithmetic performance in girls with Turner syndrome. " 06/01/1999 - "The present study shows that many adults with Turner syndrome have reduced levels of circulating androgens, compared with an age-matched group of normal women. " 12/01/2009 - "Women with Turner syndrome (TS) have reduced levels of androgens due to ovarian failure. " 11/01/2009 - "Androgen treatment for 4 years in girls with Turner syndrome resulted in a small decrease in frequency of severe arithmetic LD, with no effect on reading LD." 01/01/2003 - "Androgen-responsive aspects of cognition in girls with Turner syndrome."
7.	dichlorobis(azomycin)platinum IIIBA 04/01/2017 - "Conclusion NIPT can be used to identify fetal SCAs by analysing cffDNA using massively parallel genomic sequencing, although the accuracy needs to be improved particularly for Turner syndrome (45,X)." 10/01/2020 - "In the present study, we report discordant results of Turner syndrome (TS) mosaicism between NIPT and karyotyping. " 07/01/2014 - "A patient with abnormal non-invasive prenatal test (NIPT) results, indicating a 99% risk for monosomy X, was referred to our center for genetic counseling and confirmatory studies. " 09/01/2023 - "We present high-level mosaicism for 45,X in 45,X/46,X,+mar at amniocentesis in a pregnancy associated with positive non-invasive prenatal testing (NIPT) for Turner syndrome, normal male external genitalia and positive SRY in the fetus, a favorable fetal outcome, postnatal decrease of the 45,X cell line and cytogenetic discrepancy in various tissues. " 01/01/2021 - "Conclusion: cell-based NIPT may provide a non-invasive testing option to screen for SCAs in women with mosaicism for monosomy-X in blood, where cell-free NIPT cannot discriminate whether the X-loss is maternal or fetal."
8.	MineralsIBA 10/01/2004 - "In a previous report, preliminary data showed a significant reduction in cortical bone mineral density (BMD) in women with Turner syndrome that had been treated with GH compared with women with Turner syndrome that had not been treated. " 12/01/2010 - "This study of 22 girls with Turner syndrome (TS) demonstrates a reduction in bone mineral apparent density (BMAD) at the femoral neck along with a reduction in cortical bone density at the radius (with sparing of trabecular bone). " 11/30/2016 - "Body composition and bone mineral status in patients with Turner syndrome." 03/01/2015 - "Decreased cortical bone mineral density (BMD) has been reported in Turner syndrome (TS), using peripheral quantitative computerised tomography, and it is perceived as one of the major factors leading to increased fracture risk. " 03/01/2015 - "We aimed to show that the decrease in the cortical bone mineral density (BMD) in the radius in Turner syndrome (TS) is artificially caused by the partial volume effect. "
9.	somatrem (Protropin)FDA Link 06/01/1990 - "In conclusion, somatrem is an efficacious and safe therapy for short stature in Turner syndrome over a period of 2 years. " 01/01/1987 - "A total of 70 subjects with Turner's syndrome from 11 centres were enrolled in a study of somatrem. " 06/01/1990 - "Two-year results of treatment with methionyl human growth hormone in children with Turner syndrome. " 10/01/1988 - "Methionyl human growth hormone in Turner's syndrome." 01/01/1987 - "The response of 13 children with Turner's syndrome to somatrem, 2 IU/day, has been determined for a 4-week period of treatment using knemometric measurements, and compared to 6 months of treatment assessed by conventional auxology. "
10.	Cell-Free Nucleic AcidsIBA 01/01/2023 - "cfDNA results were high risk for monosomy X in 48/55, of which 23 were TP and 25 were false positive (FP). " 01/01/2023 - "Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants." 12/01/2022 - "Whereas we defer the subsequent management of confirmed Turner syndrome to the clinical practice guidelines, we highlight unique considerations for individuals initially identified through cell-free DNA screening." 12/01/2022 - "However, cell-free DNA screening for sex chromosome anomalies and monosomy X in particular is associated with high false-positive rates and low positive predictive value. " 09/01/2021 - "For monosomy X on cfDNA with an unaffected fetus, maternal karyotyping should be considered after normal fetal diagnostic testing. "

Therapies and Procedures

1.	Therapeutics 09/01/2007 - "For many pediatric diseases, such as GH deficiency or Turner syndrome, GH is regarded by many experts, despite the high costs of the therapy, as the first-line treatment. " 01/01/1995 - "These limited, non-controlled results indicate that GH therapy may be effective in increasing final height in Turner syndrome, though some patients may not benefit." 12/01/1995 - "On the basis of the information currently available, the only conditions in which GH therapy appears to be safe and effective in increasing adult height are GH deficiency and, likely, Turner syndrome. " 12/01/2015 - "The aim of this study was to investigate the cellular mechanisms underlying bone fragility in subjects with Turner's syndrome before induction of puberty and after hormonal replacement therapy (HRT). " 12/01/2009 - "The dosages applied in both the case studies and observational studies tended to be higher than those used in the replacement therapy of GH-deficient patients, but lower than in Turner syndrome patients. "
2.	Estrogen Replacement Therapy 10/01/2012 - "With early diagnosis, early high-dose treatment, and low-dose estrogen replacement therapy, both adult height and quality of life (QOL) of the patients with Turner syndrome have been improved." 10/01/2019 - "To evaluate the efficacy of long-term estrogen replacement therapy (ERT) in uterine development and bone mineral density (BMD) of Turner syndrome (TS) women with premature ovarian insufficiency (POI). " 10/01/2019 - "The Efficacy of Long-Term Estrogen Replacement Therapy in Turner Syndrome Women with Premature Ovarian Insufficiency." 01/01/2015 - "Efficacy of estrogen replacement therapy (ERT) on uterine growth and acquisition of bone mass in patients with Turner syndrome." 01/11/2000 - "Estrogen replacement therapy in young girls with Turner Syndrome is associated with improved verbal and nonverbal memory. "
3.	Stents 10/01/2005 - "As far as we know, this is the first description of implantation of a stent in the setting of coarctation in Turner's syndrome, albeit with an unfortunate conclusion." 10/01/2005 - "Fatal dissection of the descending aorta after implantation of a stent in a 19-year-old female with Turner's syndrome." 01/01/2022 - "A covered stent implantation for severe aortic coarctation in patients with Turner syndrome could be safe and effective. " 11/01/2010 - "In conclusion, stent implantation for aortic coarctation in patients with Turner syndrome appears to be a safe and effective alternative to surgical repair. " 02/01/2017 - "This study examines the outcome and procedural outcomes of percutaneous stent angioplasty for aortic coarctation in patients with Turner syndrome (TS). "
4.	Hormone Replacement Therapy (Therapy, Hormone Replacement) 12/01/2022 - "Early identification of Turner syndrome, a sex chromosome anomaly resulting from the complete or partial absence of the second X chromosome, allows medical interventions such as optimizing obstetrical outcomes, hormone replacement therapy, fertility preservation and support, and improved neurocognitive outcomes. " 04/24/2023 - "Hormone Replacement Therapy After Pubertal Induction in Adolescents and Young Adults with Turner Syndrome: A Survey Study." 11/01/1994 - "Our long-term study was conducted to evaluate the effect of hormone replacement therapy (HRT) on lipid metabolism in 16 POF and 10 Turner's syndrome women. " 02/23/2023 - "Patients with Turner syndrome need hormone replacement therapy for puberty induction. " 10/01/2021 - "Effects of hormone replacement therapy on endothelial function, arterial stiffness and myocardial deformation in women with Turner syndrome."
5.	Injections 05/29/2011 - "The present follow-up study of young adults from a long-term controlled trial of GH treatment in patients with Turner syndrome (TS) yielded data to examine whether GH supplementation resulted in a higher HRQOL (either due to taller stature or from the knowledge that active treatment and not placebo had been received) or alternatively a lower HRQOL (due to medicalization from years of injections). " 08/01/1994 - "In 44 girls with Turner's syndrome, aged 4.0-15.3 yr, the effects of biosynthetic GH (25 U/m2.week) given as once daily or twice daily injections were compared. " 08/01/1994 - "We conclude that division of the daily GH dose given to Turner's syndrome patients into two injections does not result in either a significantly different growth response or different side-effects from once daily treatment during the first year of therapy." 12/01/1999 - "In study 1, 19 girls with Turner syndrome, aged 11 years or older, were treated with one or two daily injections of GH at a total dose of 6 IU/m2/day (0.067 mg/kg/day) and ethinyloestradiol given orally at a dose of 0.05 microg/kg/day. " 06/01/2000 - "Carbohydrate metabolism during growth hormone treatment and after discontinuation of growth hormone treatment in girls with Turner syndrome treated with once or twice daily growth hormone injections."