scholarly journals CASE REPORTON TURNERS SYNDROME IN NORTH KARNATAKA

2017 ◽  
Vol 10 (4) ◽  
pp. 3
Author(s):  
G S Kadakol ◽  
Gavishiddappa Hadimani ◽  
Shankar V Patil ◽  
Rudragouda S Bulagouda
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Clinical Features ◽  
Gonadal Dysgenesis ◽  
Chromosome Analysis ◽  
Pubic Hair ◽  
Neck Swelling ◽  
Cytogenetic Investigation ◽  
Hands And Feet

Turner syndrome (TS) is a common chromosomaldisorder. Turner syndrome (TS) also known as Ulrich–Turner syndrome, gonadal dysgenesis and 45, X, is a condition in which a female is partly or completely missing an X chromosome.The main clinical features of TS are Swollen hands and feet,Wide and webbed neck, a combination of the following symptoms may be seen in older females:Absent or incomplete development at puberty, including sparse pubic hair and small breasts broad, flat chest shaped like a shield, drooping eyelids, Turner Syndrome frequently seen  in young infants.Our case of a 10-year-old girl has TS-specific clinical hallmarks,with the symptoms of short stature, wide barred shaped chest drooping eyelids. She visited our hospital because of her neck swelling, pain in on /off condition since one month. In our study we reported both clinically & cytogenetic investigation which shows a patient is suffering from Turner Syndrome. This type of Syndrome is very rare in this region.Keywords:Turner Syndrome,   Short Stature,Chromosome Analysis

On a case of a Turner Syndrome with a rare chromosomal finding (partial mosaic)

1966 ◽  
Vol 15 (4) ◽  
pp. 371-385
Author(s):  
C. Zara ◽  
A. Mannini ◽  
U. Magrini
Keyword(s):  
Turner Syndrome ◽  
Gonadal Dysgenesis ◽  
Chromosome Analysis ◽  
Primary Amenorrhea ◽  
Pertinent Literature

SUMMARYClinical and chromosomal studies of a case of gonadal dysgenesis. The patient presented primary amenorrhea, rudimentary uterus, ipoplastic tubes and gonadad streak. No Barr bodies or drumsticks were found, and the chromosome analysis revealed a mosaic of the type XO/X + centric fragment. The pertinent literature is reviewed, and attention is drawn to the possible existence of a secretion of the steroid type in the Leydig-like cells present in the gonadal streak.

scholarly journals Tactile Sensitivity of Women with Turner Syndrome

2019 ◽  
Vol 16 (20) ◽  
pp. 3870
Author(s):  
Julia Jajor ◽  
Anna Kostiukow ◽  
Włodzimierz Samborski ◽  
Elżbieta Rostkowska ◽  
Aleksandra Śliwa ◽  
...  
Keyword(s):  
Healthy Volunteers ◽  
Short Stature ◽  
Turner Syndrome ◽  
Anthropometric Measurements ◽  
Sensitivity Threshold ◽  
Tactile Sensitivity ◽  
Healthy Women ◽  
Hands And Feet ◽  
Study Participants ◽  
Skinfold Caliper

Physical manifestations of Turner syndrome include short stature, a webbed neck, and a shield chest with widely spaced nipples. An aspect of the disease which has not been sufficiently explored so far is the tactile sensitivity of Turner syndrome patients. Thus, the aim of the study was to assess the threshold of tactile sensitivity on hands and feet of women suffering from Turner syndrome. Information on the participants of the study was collected on the basis of questionnaires, as well as anthropometric measurements using a skinfold caliper. Semmes-Weinstein Aesthesiometer was used to find the tactile sensitivity threshold of hands and feet of study participants. Based on the results of the study, significant differences in tactile sensitivity between women with Turner syndrome and healthy women were found. Affected women seem be more sensitive to the touch on the feet than healthy volunteers. The results of the study showed that the tactile sensitivity of women with Turner syndrome is different from that of healthy women.

scholarly journals Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Hanane Latrech ◽  
Houssein Madar ◽  
Ahmed Gaouzi
Keyword(s):  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Clinical Presentation ◽  
Sex Chromosome ◽  
De Novo ◽  
First Case ◽  
Chromosome Disorder ◽  
De Novo Translocation

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

scholarly journals Unusual Cause of Gastrointestinal Bleeding in a Patient with Turner Syndrome

2018 ◽  
Vol 12 (2) ◽  
pp. 292-296 ◽  
Author(s):  
Rafael Bergesch D’Incao ◽  
Marcelo Campos Appel-da-Silva ◽  
Patricia dos Santos Marcon ◽  
Eduardo Marques Correa ◽  
Euler Manenti ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gastrointestinal Bleeding ◽  
Short Stature ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Bowel Disease ◽  
Genetic Disease ◽  
Gonadal Dysgenesis ◽  
Vascular Lesions ◽  
Inflammatory Bowel

Turner syndrome is an exclusively female genetic disease caused by complete or partial absence of the second X chromosome. It is classically characterized by congenital lymphedema, short stature, and gonadal dysgenesis. In addition, the syndrome is associated with several other abnormalities. One of them is gastrointestinal bleeding, which is frequently associated with inflammatory bowel disease, but it can also be caused by vascular lesions such as hemangioma, vascular ectasia, and telangiectasia. We report the case of a patient with Turner syndrome with an episode of gastrointestinal bleeding, outlining our pathway for the investigation and treatment of this condition.

scholarly journals NEGLECTED TURNER SYNDROME IN A SHORT STATURED ADOLESCENT: CASE REPORT

1970 ◽  
Vol 9 (4) ◽  
pp. 413-415
Author(s):  
Oluwayemi I.O*,Odeyemi A.O, Ayeni T.O
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Clinical Signs ◽  
Tanner Stage ◽  
Optimal Growth ◽  
Delayed Puberty ◽  
Hands And Feet ◽  
Almost All ◽  
Stage 1

Turner syndrome, a chromosomal anomaly with loss of all or part of one sex chromosome,has an incidence of 1/ 2500 female live births. Clinical signs like lymphoedema duringinfancy, or short stature and delayed puberty are common reasons to screen for Turnersyndrome. Ovarian failure occurs in almost all affected females. We present a 15 yearold girl who presented with short stature and delayed puberty. Her mother rememberedshe noticed swelling of both hands and feet during infancy but made no meaning of it.Patient’s weight and height were below the 3rd percentile and had no secondary sexualcharacteristics at presentation. Patient’s karyotype (45, XO) confirmed the diagnosis.She had low serum estradiol, small uterus and atretic ovaries. Puberty was stimulatedwith Primarin for 2 years during which she gained 3kg in weight, 4cm in height andbreast development from Tanner stage 1 to 4. Clinicians need to look out for commonclinical signs of Turner syndrome for early diagnosis, referral and management ofaffected children for optimal growth and development.Key words: Turner syndrome–adolescent–neglected–short stature

scholarly journals A Case of Turner Syndrome with Hyperparathyroidism in an Adult

2008 ◽  
Vol 87 (2) ◽  
pp. 110-112 ◽  
Author(s):  
Thomas V. Paul ◽  
James Dinakar ◽  
Nihal Thomas ◽  
Suma Susan Mathews ◽  
Nylla Shanthly ◽  
...  
Keyword(s):  
Primary Hyperparathyroidism ◽  
Parathyroid Adenoma ◽  
Short Stature ◽  
Turner Syndrome ◽  
Auditory System ◽  
Calcium Level ◽  
Gonadal Dysgenesis ◽  
Serum Calcium Level ◽  
Severe Osteoporosis ◽  
Cardiac Defects

Turner syndrome is a hereditary chromosomal anomaly that affects girls and women. A result of gonadal dysgenesis, its primary characteristics are short stature, osteoporosis, neck webbing, and cardiac defects. Turner syndrome may also involve the auditory system and kidneys. We report the case of a woman with Turner syndrome who presented late in adulthood with severe osteoporosis and hypercalcemia. She was subsequently diagnosed with primary hyperparathyroidism secondary to a parathyroid adenoma. After excision of the adenoma, the woman's serum calcium level normalized. To the best of our knowledge, only 4 other cases of Turner syndrome with hyperparathyroidism have been reported in the literature.

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