Otologic Disease in Turner Syndrome

Dhooge, Ingeborg; Vel, Eddy De; Verhoye, C; Lemmerling, Marc; Vinck, Bart

doi:10.1097/00129492-200503000-00003

Cited by 60 publications

(80 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Our observed frequencies of chronic or recurrent otitis media and SNHL in TS are also consistent with previous reports 3, [20][21][22] . Almost all of our TS subjects, even individuals with no external craniofacial signs, had recurrent or chronic OM, SNHL or a dysmorphic palate.…”

Section: Discussionsupporting

confidence: 93%

Otolaryngologic Markers for Early Diagnosis of Turner Syndrome

Makishima¹,

Brewer²,

Zalewski³

et al. 2004

Otolaryngol.--head neck surg.

View full text Add to dashboard Cite

Objective-To identify and characterize otolaryngologic markers for the early diagnosis of Turner Syndrome (TS).Study Design-Prospective cohort survey. Setting: Clinical Center of the National Institutes of Health (NIH).Patients: Ninety-one females, 7 -61 years old (average = 28.7 y), enrolled in a multidisciplinary study of karyotype-phenotype correlations in TS. Main Outcome Measures:Age at diagnosis, X chromosome karyotype, history of chronic or recurrent otitis media (OM), sensorineural hearing loss (SNHL), palate dysmorphism, pinna deformity, pterygium colli, low posterior hairline, low-set ears, and micrognathia.Results-Sixty-nine (76%) patients had a history of chronic or recurrent OM, 62 (68%) had a dysmorphic palate, 57 (63%) had SNHL, and 90 (99%) had one or more of these findings. 83 (91%; average age at diagnosis = 9.4 y) had one or more external craniofacial signs: pinna abnormalities, pterygium colli, low-set ears, micrognathia or a low posterior hairline. Eight patients (average age at diagnosis = 13.2 y) had no external craniofacial signs, although seven (88%) of these eight patients had a history of chronic or recurrent OM, dysmorphic palate or SNHL. The age at diagnosis was not significantly different between groups with or without external craniofacial signs (P = 0.126).Conclusions-Patients with mild or incompletely penetrant TS phenotypes often present with otitis media, hearing loss, or both before the diagnosis of TS is established. Palatal dysmorphism, including ogival morphology, is another otolaryngologic marker for TS. Prompt recognition of these manifestations of TS could hasten its diagnosis and appropriate medical care.

show abstract

Section: Discussionsupporting

confidence: 93%

Otolaryngologic Markers for Early Diagnosis of Turner Syndrome

Makishima¹,

Brewer²,

Zalewski³

et al. 2004

Otolaryngol.--head neck surg.

View full text Add to dashboard Cite

show abstract

“…X-chromosome abnormalities may play a role in the pathogenesis of inflammatory bowel disease. An increased susceptibility has been reported in women with the isochromosome Xq karyotype (16,17). The incidence of autoimmune thyroid disease in females with TS increases with age.…”

Section: Resultsmentioning

confidence: 99%

“…Both of them were 7 years old at the time of the diagnosis of hearing loss. Structural renal malformations, including horseshoe kidney and duplication of the collecting system, are found in up to 40% of patients with TS (16). While structural malformations of the kidney more frequently occur in pure 45, X patients, collecting system malformations more frequently occur in those with other TS karyotypes (17).…”

Section: Resultsmentioning

confidence: 99%

Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

Gürsoy¹,

Kilicarslan²,

Bozkaya³

et al. 2017

Erciyes Med J

View full text Add to dashboard Cite

Objective: The objective of the present study was to describe the phenotypic features of Turner syndrome (TS) and to investigate the relationship between the genotype and the phenotype. Materials and Methods:We studied 26 female patients who were enrolled between 2006 and 2015. Physical features, clinical history, laboratory findings, and imaging test results were recorded. Chromosomal analysis was performed on peripheral blood lymphocyte cultures of the patients. Results:The mean age of the study population was 10.4±5.6 years (range, 1 day to 17 years). Three patients were diagnosed in the neonatal period. Although the most common phenotypic feature was short stature (92.3%), the characteristic stigmatas were usually seen in the 45, X karyotype. Among the 26 patients, monosomy 45, X was detected in 7 (26.9%) of them. Eleven percent of our patients had 46,X,i(X) (isochromosome Xq), while the rest demonstrated mosaic karyotypes [45,X/46,XY (19.2%); 45,X/46,XX (11.5%); 45,X/46,X,i(X) (11.5%); 45,X/46,XX,r(X) (7.7%); 45,X/46,X,i(Y) (3.8%); 45,X/47,XXX (3.8%); and 45,X/46,XX del(Xp) (3.8%)].Conclusion: TS is one of the most common sex chromosome abnormalities, but it is frequently underdiagnosed. The frequency of the monosomy 45, X karyotype in TS is less than previously thought. Therefore, patients should be evaluated by chromosome analysis in case there is clinical suspicion.

show abstract

“…Typical karyotype of TS is 45, XO, originating from complete or partial missing of the X chromosome. The clinical manifestations of TS vary, but mainly consist of short stature, widely spaced nipples, evagination of forearms, congenital lymphedema, lack of pubertal development, webbed neck, cardiovascular malformations, damaged glucose tolerance, disorders of the thyroid glands and hearing loss [3][4][5][6][7][8]. TS occurs in 1 out of 2500-3000 live female newborns [9].…”

Section: Discussionmentioning

confidence: 99%

A Case Analysis of Turner's syndrome for Neonate

Zhu¹

2017

IGRWH

View full text Add to dashboard Cite

Background: Turner 's syndrome (TS) is the only monosomic syndrome in humans with affected individuals who may survive.Methods: we reported an 8-day old female infant who was diagnosed as TS. Detailed information regarding as clinical features, diagnosis, management, and outcome are provided.Results: The main clinical features were legathy, purple face, weak cry and shortness of breath, other manifestations including edema in the back of the neck, dyspnea with obvious retractions, rales in both lungs, edema in lower legs, feet and joints without pitting, and poorly developed toe nails. Chromosomal analysis of peripheral blood shows a karyotype of 45, XO and thus the diagnosis in the newborn stage of life, concurrently suffering from lung infection and congenital heart disease.Conclusion: As a common chromosomal disorder, TS has the special clinical features, diagnosed according to the Chromosomal analysis of peripheral blood, and can be recognized at neonatal stage. If we can diagnose early, the prognosis of patients will be better. A full understanding of the prognosis of the disorder and effective communication with patients and their family are crucial to improve the life quality of TS sufferers.

show abstract

Otologic Disease in Turner Syndrome

Abstract: Careful follow-up during early childhood of children with Turner syndrome is necessary to detect middle ear disease and prevent sequelae. However, long-term periodic review is mandatory even after resolution of middle ear disease to detect sensorineural hearing loss.

Cited by 60 publications

References 14 publications

Otolaryngologic Markers for Early Diagnosis of Turner Syndrome

Otolaryngologic Markers for Early Diagnosis of Turner Syndrome

Clinical and Cytogenetic Evaluations of Patients with Turner Syndrome: Are We Aware Enough?

A Case Analysis of Turner's syndrome for Neonate

Contact Info

Product

Resources

About