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Year : 2011  |  Volume : 15  |  Issue : 2  |  Page : 127-129

17-α-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension

1 Department of Endocrinology, Medwin Hospital, Hyderabad, Andhra Pradesh, India
2 Department of Nephrology, Medwin Hospital, Hyderabad, Andhra Pradesh, India

Correspondence Address:
Sunil Kumar Kota
Department of Endocrinology, Medwin Hospitals, Chiragh Ali Lane, Nampally, Hyderabad - 500 001, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2230-8210.81945

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A 14-year-old girl presented with acute onset quadriparesis and newly detected hypertension. Parental consanguinity, delayed puberty with normal stature form the additional information. Hypokalemia with metabolic alkalosis, low cortisol, high ACTH and FSH pointed to the possibility of CAH with 17α hydroxylase deficiency. 46XX karyotype and high progesterone supported this. Normalization of hypokalemia and hypertension with glucocorticoid treatment confirmed the diagnosis. In summary, the possibility of 17 OHD should be suspected in patients with hypokalemic myopathy, Hypertension and hypogonadism so that appropriate therapy can be implemented.

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