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Journal of Case Reports
Rare Association of Clitoromegaly and Gonadal Dysgenesis with Ataxia Telangiectasia

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Prashant Patil, Rahul Jahagirdar, Kavita Srivastava
Division of Pediatric Endocrinology, Department of Pediatrics, Bharati Vidyapeeth University Medical College, Pune, Maharashtra, India.
Corresponding Author:
Dr. Prashant Patil
Email: dr_prash4u@yahoo.com
Received: 31-OCT-2015 Accepted: 01-FEB-2016 Published Online: 20-FEB-2016
DOI: http://dx.doi.org/10.17659/01.2016.0019
Ataxia-telangiectasia (AT) is an autosomal recessive, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, immunodeficiency and propensity for recurrent sinopulmonary infections. The primary defect is mutation of ATM gene leading to defective signal transduction in case of DNA damage. The authors here report a 13 year old girl having 46 XX karyotype and negative SRY gene with severe failure to thrive, spasticity, bulbar telangiectasia, clitoromegaly and gonadal dysgenesis. Child had hypoplastic uterus with non-visualization of ovaries on MRI pelvis. The diagnosis of ataxia-telangiectasia (AT) was confirmed with very high levels of alfa-fetoprotein (AFP). Association between clitoral hypertrophy in case of AT is rare but in our case it could be explained on the basis of gonadal dysgenesis. 
Keywords : Ataxia-Telangiectasia, Cerebellar Ataxia, Gonadal Dysgenesis, Turner Syndrome, Uterus.
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