Category: Reproductive Endocrinology

Monitor: 28

28 - TURNER SYNDROME - A CLINICAL AND CYTOGENETIC STUDY IN PATIENTS PRESENTING TO A TERTIARY CARE CENTER IN EASTERN INDIA

Saturday, Apr 27
11:30 AM – 12:00 PM

Objective : Turner syndrome (TS) is one of the most common sex chromosomal abnormality which occus in 1 in 2500 – 3000 live female births. It results from complete or partial monosomy of X chromosome. The majority of patients present with short stature, primary amenorrhoea and delayed puberty. Less consistent abnormalities include webbed neck, cubitus valgus, shield chest, renal and cardiac defects. We aimed to study the variable phenotypic features and genotype of TS in Eastern India.


Methods : 22 patients with TS who attended the department of endocrinology in the last three years were studied. All patients underwent a thorough clinical examination followed by biochemical and hormonal investigation and cytogenetic analysis.


Results : Among the 22 patients, 10 (45.4%) had classical 45XO, 8 (36.4%) had mosaicism (Five - 45X/46XX and one each of 45X/46X, idic(X)(p11.2), 45X/46X,i(Xq) and 45X/46Xdel [Xq]). 3 (13.6%) had structural abnormality - 46X,i(Xq), 46X,del(X)(p21) and 46X,del(X)(q12). 1 had partial monosomy of X. Mean age of presentation was 14.5 years. 100% had short stature with mean height Z score -4.82 .19(86.3%) had primary amenorrhoea and delayed development of secondary sexual characters. Webbing of neck was present in 4(18.1%). Multiple nevi, short metacarpals/metatarsals were present in 10 (45.4%). Kyphoscoliosis was seen in 5 (22.7%).Cubitus valgus was seen in 10 (45.5%).Genu varum and madelung deformity were seen in 1 each.Otitis media was seen in 5 (22.7%). 1 had sensorineural deafness and mental retardation. Visuospatial and learning defects were seen in 6 (27.3%). 5 cases had autoimmune hypothyroidism and 1 had Type 2 Diabetes Mellitus. Bicuspid aortic valve (BAV) were seen in 4 (18.1%). We had 1 case each with horseshoe kidney and vesicoureteral reflux. None had celiac or inflammatory bowel disease.


Discussion : This study shows the phenotypic variability of TS. Some patients have only subtle features and others are strikingly dysmorphic.The phenotypic features were more severe in 45XO.The most common presenting feature was short stature and primary amenorrhoea. Patients with mosiacism have a higher chance of attaining spontaneous puberty which was seen in 2 patients. TS usually have normal intelligence, but 1 patient had severe mental retardation with delayed milestones. Asymptomatic BAV was seen in 4 cases with 45XO. Structural malformation of kidneys are more common in 45XO was seen in 1 case.


Conclusion : A cytogenetic testing should be considered in all women presenting with short stature and delayed puberty as the phenotypic features of TS may often be very subtle. A comprehensive screening for asymptomatic associated conditions should be done to prevent morbidity and mortality.

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Rahul Valsaraj

Post Doctoral Trainee ( 2nd Year) DM Endocrinology
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

My hometown is in Kerala India. I did my MBBS from Amrita School of Medicine Kochi , Kerala and my MD internal medicine from Gauhati medical college in Assam . I'm presently a 2nd year Post Doctoral trainee in DM Endocrinology in Nilratan Sircar medical college and hospital under the West Bengal University of Health Sciences.

Nilanjan Sengupta

Professor and Head
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Professor and Head , Department of Endocrinology, Nilratan Sircar Medical College and Hospital, Convener of DM Exit examinations - NRSMCH under WBUHS, Thesis Adjudicator of WBUHS and Utkal University, GCP inspector of Pioneer 8 Clinical Trial appointed by DCGI – Sept 2018, Secretary Board of Studies (Endocrinology) WBUHS, National Advisory Board – Indian Journal of Endocrinology and Metabolism

Pranab Sahana

Associate Professor
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Associate Professor, Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences, Principal Investigator – Evaluation of Safety and Efficacy of Hydroxychoroquine Sulfate as an adjunct to Diet and Exercise to improve Glycemic control in Type 2 Diabetes Patients uncontrolled on Sulfonylurea + Metformin – a phase IV multicentre trial, Editor of Open Access Journal of Endocrinology (OAJE)

Arjun Baidya

Assistant Professor
Department of Endocrinology , Nilratan Sircar Medical College , Kolkata, West Bengal, India
Kolkata, West Bengal, India

Assistant Professor, Dept. of Endocrinology and Metabolism, NRS Medical College & Hospital ,Kolkata, West Bengal, India
Faculty of “National Diabetes Educator Program” Course since 2013.
External and Internal Examiner of DDCT (Diploma in Diabetes Care and Technology) Course.
Twelve years of teaching Experience.
Co-guide for dissertation in DM (postdoctoral course in endocrinology) and MD and MS (postgraduate course) and MSc (Nursing) under The West Bengal University of Health Sciences, Kolkata since 2014
Seven Presentations in numerous National and International conference (ESICON, AACE, Indian Thyroid Society Annual Conference etc.)
Twenty Index Publication in national and International journals.
Reviewer of "Biomedical and Pharmacy Journal”, “Journal of Endocrinology and Metabolism” and “Journal of Neurosciences in Rural Practice”.
Principal and co investigator of 3 ongoing Clinical Trial Research.
Invited Faculty and Speaker in various National and State Conferences, Symposiums and Seminars (CME)


Soumik Goswami

Registered Medical Officer cum Clinical Tutor
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Registered Medical Officer cum Clinical Tutor, Research Lab in-charge , Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences , MBBS from Medical College, Kolkata, in 2005, MD in Internal Medicine in 2010 and DM in Endocrinology in 2013, both from IPGME&R and SSKM Hospital, Kolkata.

Sreenath Ravindranath

Post Doctoral Trainee ( 3rd Year) DM Endocrinology
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Post Doctoral Trainee ( 3rd Year) DM Endocrinology , Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences

Arindam Ray

Post Doctoral Trainee ( 3rd Year) DM Endocrinology
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Post Doctoral Trainee ( 3rd Year) DM Endocrinology , Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences

Riyas R S

Post Doctoral Trainee ( 2nd Year) DM Endocrinology
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Post Doctoral Trainee ( 2nd Year) DM Endocrinology, Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences

Ashu Goyal

Post Doctoral Trainee ( 2nd Year) DM Endocrinology
Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences
Kolkata, West Bengal, India

Post Doctoral Trainee ( 2nd Year) DM Endocrinology , Department of Endocrinology , Nilratan Sircar Medical College , West Bengal University of Health Sciences