Two novel mutations with 17 hydroxylase deficiency – Alpha and beta presenting as 46XY disorders of sexual development
DOI:
https://doi.org/10.32677/IJCH.2019.v06.i11.013Keywords:
Congenital adrenal hyperplasia, Disorders of sexual development, Endocrine hypertensionAbstract
17 alpha-hydroxylase and 17 beta-hydroxylase deficiency are rare causes of 46XY disorders of sexual development. The gene for 17 alpha-hydroxylase enzyme (CYP17A1) is located at 10q24.3 and for 17 beta-hydroxylase is (17?HSD3) on 9q22. CYP17A1 can present with delayed puberty and hyporeninemic, hypokalemic hypertension. In 17?HSD3 deficiency, a biochemical pointer to diagnosis includes a stimulated ratio of testosterone (T) to androstenedione (A) of <0.8. We report two cases, one with 17?HSD3 defect in infancy with atypical genitalia and second with CYP17A1 which presented in childhood with novel mutations. There is a wide spectrum of phenotypic presentations of these disorders. Genetic analysis gives confirmation.
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Copyright (c) 2020 Nikhil Lohiya, Vaman Khadilkar, Kamini Mehta, Anuradha Khadilkar
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