The Turkish Journal of Pediatrics 2004 , Vol 46 , Num 4
Triple-X syndrome accompanied by congenital adrenal hyperplasia: case report

Departments of Pediatrics Erciyes University Faculty of Medicine, Kayseri, Turkey

Departments of Genetics, Erciyes University Faculty of Medicine, Kayseri, Turkey

Abstract

Kurtoğlu S, Atabek ME, Akçakuş M, Özkul Y, Saatçi Ç. Triple-X syndrome accompanied by congenital adrenal hyperplasia: case report. Turk J Pediatr 2004; 46: 377-379.

The 47,XXX karyotype is a rare sex chromosome anomaly. This karyotype is usually not associated with a characteristic physical phenotype. In the presented case, a triple-X girl patient associated with 11[beta] -hydroxylase deficiency is identified. The case was referred to the Endocrinology Unit at six days of age because of ambiguous genitalia. The karyotype in this case was 47,XXX, an unexpected finding. Diagnosis of 47,XXX individuals remains difficult because specific clinical criteria used to identify this condition are not available. Congenital adrenal hyperplasia has not been previously reported in patients with triple-X syndrome.

Keywords : triple-X congenital adrenal hyperplasia 11beta-hydroxylase deficiency.
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