title: 17-α-Hydroxylase deficiency: An unusual case with primary amenorrhea and hypertension.
abstract: 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.
authors: Department of Endocrinology, Medwin Hospital, Hyderabad, Andhra Pradesh, India.
authors: Sunil Kumar
authors: SK
authors: Kota
authors: Kirtikumar
authors: K
authors: Modi
authors: Ratan
authors: R
authors: Jha
authors: Surya Narayan
authors: SN
authors: Mandal