Turner Syndrome: Fifteen Years’ Experience in India

Maiti, Abhishek; Chatterjee, Sudip

doi:10.1007/s13224-013-0411-5

Cited by 6 publications

(5 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a study from eastern India, the mean age at diagnosis was 11.7 ± 5.2 years with a range of 2–23 years. [ 5 ] This late age of diagnosis as in our study precludes meaningful interventions in optimizing growth potential like GH therapy. When TS is detected and managed early enough, psychological and educational support can help with academic achievement and social integration.…”

Section: Discussionmentioning

confidence: 92%

See 1 more Smart Citation

Delayed presentation of turner syndrome: Challenge to optimal management

2017

View full text Add to dashboard Cite

Background:Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management.Aim:The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype.Material and Methods:This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used.Results:Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years). Primary amenorrhea was the most common reason for seeking medical attention (76.4%) followed by short stature and diabetes mellitus (11.8% each). The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X) was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X)(q10) in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype.Conclusion:Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting.

show abstract

Section: Discussionmentioning

confidence: 92%

“…Monosomy of X chromosome has been the most commonly reported karyotype in TS, ranging from 38.9% to 50.7%. [ 3 5 7 13 ] None of our patients had a Y cell line. Because of the small number of patients involved, it is difficult to make a karyotype-phenotype correlation.…”

Section: Discussionmentioning

confidence: 99%

Delayed presentation of turner syndrome: Challenge to optimal management

2017

View full text Add to dashboard Cite

show abstract

“…DCM is a very rare cardiological phenomenon that can be associated with Turner syndrome with a paucity of literature worldwide [ 7 ]. Along with the clinical presentation, the ring chromosomal pattern of karyotype analysis, which has shown mosaic patterned distribution in cells analyzed, is certainly a very rare genetic anomaly found in 2.9% Turner syndrome patients shown by Maiti and Chatterjee from eastern India [ 8 ]. More interestingly, classical Turner syndrome patients present with normal intelligence mostly and small X-ring chromosome is usually known to have intellectual disabilities due to failure of undergoing X-inactivation that was evident in our patient also [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Decoding enigma: Turner syndrome with ring chromosome

Roy

Basu

et al. 2021

Oxford Medical Case Reports

View full text Add to dashboard Cite

Ring chromosome X is one of the rarest with some unique phenotypical features in Turner syndrome. A young female presented to us with anasarca developed over the past 2 months due to congestive cardiac failure along with jaundice and orthopnea. She had growth retardation, intellectual disability, primary amenorrhea, lack of secondary sexual character development and dysmorphic features like low posterior hairline, shield chest and cubitus valgus. She had dilated cardiomyopathy (DCM) with intracardiac thrombus on echocardiography. Skeletal survey revealed short fourth metacarpal/tarsal on limbs. Karyotyping showed a mosaic pattern, with 45, X/46, X,r(X)(p22.3q28), i.e. Turner syndrome karyotype with ring chromosome. Her heart failure with reduced ejection fraction was managed with vasopressor along with anticoagulant and given oral contraceptive pills for hormone replacement therapy. The ring chromosomal pattern of karyotype in this patient and DCM is a rare cardiological phenomenon that can be associated with Turner syndrome, making this case a unique one.

show abstract

“…The median age of presentation was 11 years in case of classical TS, while it was 14 years in variants in a study done in India [10]. Similarly, another study documented mean age at diagnosis as 11.7 ± 5.2 years; the median age was 12 years (range 2-23 years) [11]. It can be noted that the mean age of presentation of TS is much later in India compared to the age of presentation in developed countries.…”

Section: Discussionmentioning

confidence: 89%

Clinical Profile of Turner Syndrome: A Tertiary Center Experience

Mohan¹,

Hegde²,

Nagarajappa³

et al. 2023

Dubai Diabetes Endocrinol J

View full text Add to dashboard Cite

Background: Turner syndrome (TS) is the commonest chromosomal abnormality in females with an incidence of 25–50 per 100,000 females. Girls with TS universally have short stature (95%), along with gonadal failure (>90%) and infertility (99%); however, the ethnic differences are not well elaborated. Objectives: This study has been planned to evaluate the presentation and course of Indian girls with TS. Methods: Patients with TS presenting to our referral endocrinology clinic were included in this study. Diagnosis of TS was done by karyotyping. A retrospective chart review of these patients formed the basis of this study. Results: A total of 55 patients with TS karyotype were seen, and the mean age at diagnosis was 12.3 years. The commonest presenting features were short stature alone seen in 37 (65.45%) and short stature with delayed puberty in 18 (32.72%). The earliest age at presentation was 4.5 years who presented with short stature. The mean height was 124.17 cm and mean BMI 17.54 kg/m2. The most common karyotype was 45, XO found in 34 (61.6%) of the cases. 15 (27.27%) the cases were started on growth hormone therapy. 26 cases (47.27%) required pubertal induction. Conclusion: A vast number of cases with TS in India remain undiagnosed until puberty or present very late. A high degree of clinical suspicion can help us diagnose these children earlier. If TS is diagnosed earlier, growth can be achieved up to their maximum potential. Early identification and management will help us provide multidisciplinary care and hence prevent complications.

show abstract

Turner Syndrome: Fifteen Years’ Experience in India

Cited by 6 publications

References 4 publications

Delayed presentation of turner syndrome: Challenge to optimal management

Delayed presentation of turner syndrome: Challenge to optimal management

Decoding enigma: Turner syndrome with ring chromosome

Clinical Profile of Turner Syndrome: A Tertiary Center Experience

Contact Info

Product

Resources

About