|Year : 2006 | Volume
| Issue : 3 | Page : 121-122
Bronchiectasis in Turner's syndrome
Mahadev Patil, Manoj Maske, JM Joshi
Department of Respiratory Medicine, T. N. Medical College and B. Y. L. Nair Hospital, Mumbai-400 008., India
J M Joshi
Department of Respiratory Medicine, T. N. Medical College and B. Y. L. Nair Hospital, Mumbai-400 008.
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Turner's syndrome is a form of gonadal dysgenesis, which occurs due to abnormalities in the X chromosome during gametogenesis. The diagnosis may be made at birth due to various associated abnormalities or at puberty due to primary ammenarrhoea and delayed sexual development Abnormalities of the skeleton and connective tissue in Turner's syndrome has been frequently reported. We present a case of bilateral bronchiectasis in a patient with Turner's syndrome, of which only 2 cases have been reported so far in literature. Further studies are required to know the true incidence and the etiology of this association.
|How to cite this article:|
Patil M, Maske M, Joshi J M. Bronchiectasis in Turner's syndrome. Lung India 2006;23:121-2
| Clinical Summary|| |
A 25-year-old female, nonaddict, unmarried presented to us with symptoms of cough with expectoration, which increased in supine position and dyspnoea on exertion since childhood. She had history of multiple exacerbations of her symptoms requiring hospital admissions. She had no past history of exanthematous fever or pulmonary tuberculosis. There was no history of consanguineous marriage in parents or history of similar complaints in her siblings. On examination she was short statured and her vital parameters were normal. She had grade II clubbing and bilateral pedal edema, which was pitting in nature. Respiratory system examination revealed bilateral coarse crepitations. In addition her breasts were not developed and axillary and pubic hair were absent. Gynecological examination revealed non-development of labia majora, minora, clitoris and vagina. Routine blood investigations were within normal limits. Her chest radiograph revealed bilateral cystic lesions. Arterial blood gases showed resting hypoxaemia with a pH 7.435, pCo 2 40.4mm Hg, pO 2 51.6mm Hg, HCO3 27.8 and saturation of 88%. High resolution computed tomography of thorax showed extensive changes of cystic bronchiectasis, which were seen in the upper lobes, right middle lobe and lingula [Figure 1]. Ultrasanography of the abdomen was suggestive of horseshoe shaped kidney with a mass noted near the neck of urinary bladder, probably prostate, which is suggestive of hermaphrodism. In view of these findings, a diagnosis of Bronchiectasis in Turner's syndrome was made.
| Discussion|| |
Turner's syndrome is a type of gonadal dysgenesis; the incidence is 1 in 3000 newborn females. The diagnosis is made at birth due to associated anomalies or may be delayed till puberty. Turner's syndrome is characterized by rudimentary breast, Fallopian tube More Detailss and uterus and bilateral streaky gonads located in broad ligaments with fibrous tissue and no ovarian stroma. Associated somatic anomalies involves lymphedema of hands and feet, webbing of neck, low hair line, redundant skin folds on the back of the neck, a shield like chest with widely spaced nipples, growth retardation which are features that guide to early diagnosis. Typical facies characterized by micrognathia, epicanthal folds, prominent low set or deformed ears, a fish-like mouth, ptosis may be seen  . 10-20% of patients have coarctation of aorta while other associated conditions include renal malformation, pigmented nevi, hypoplastic nails, tendency to keloid formation, perceptive hearing loss, unexplained hypertension, glucose intolerance and autoimmune thyroid disease  . Diagnosis is made by sex chromatin [Barr body] detection and chromosomal karyotyping is necessary for diagnosis and to identify fraction of 'Y' chromosome elements.
Turner's Syndrome has well described associations with congenital heart disease. Up to one third of the patients with karyotype 45,X may have coarctation of the aorta: In addition, patients with hypertrophic cardiomyopathy, septal defects, dextrocardia, and anomalous pulmonary venous drainage have been reported anecdotally.  Bronchiectasis in Turner's syndrome has been reported in only 2 cases in literature. , The etiology of bronchiectasis was attributed to ciliary aplasia, diagnosed by electron microscopic study of nasal mucosal biopsy in one case and defective pulmonary venous drainage in the other. The management of Turner's syndrome is replacement with estrogen at puberty, which induces maturation of the breasts, labia, vagina, and uterus and fallopian tubes and combination therapy with growth hormone, which accelerates growth and increases final height. The treatment of associated bronchiectasis requires adequate physiotherapy, medical management in the form of bronchodilators and antibiotics during infection to prevent further pulmonary suppuration.
In conclusion, as there are only a few cases being reported till date Turner's syndrome cannot be included as an cause of congenital bronchiectasis, however there is a association between Turner's syndrome and bronchiectasis and further studies are needed to establish the same.
| References|| |
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