A Rare Cause of Primary Amenorrhea and Hypokalemia; 17-A-Hydroxylase Deficiency (17OHD)  

Mustafa   Demirpence , Devrim   Dolek , Fusun Salgur , Ahmet Gorgel , Ece Harman , Mithat Bahceci
Department of Endocrinology and Metabolism, Ataturk Training and Research Hospital, Izmir, Turkey
Author    Correspondence author
International Journal of Clinical Case Reports, 2013, Vol. 3, No. 5   doi: 10.5376/ijccr.2013.03.0005
Received: 24 Apr., 2013    Accepted: 10 May, 2013    Published: 12 May, 2013
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This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

A 22-year-old female patient was admitted due to primary amenorrhea and chronic weakness. Parental consanguinity, delayed puberty with normal stature form the additional information. Hypokalemia with metabolic alkalosis, low cortisol, high ACTH, LH and FSH pointed to the possibility of congenital adrenal hyperplasia CAH with 17? hydroxylase deficiency. 46XX karyotype and high progesterone supported this.. In summary, the possibility of 17 OHD should be suspected in patients with hypokalemic normal blood pressure or hypertension and hypergonadortropic hypogonadism. Our patient all clinical and laboratory findings we diagnosed a 17-alpha hydroxylase deficiency in this patient and hydrocortisone (10 mg/day) and ethinyl estradiol 0.03 mg/day was started.

17-α-hydroxylase deficiency; Hypokalemia and primary amenorrhea
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