(CSEMP043) A CASE OF 17 ALPHA HYDROXYLASE DEFICIENCY PRESENTING WITH HYPERTENSION AND HYPOKALEMIA

Abstract:

Background:
We present an interesting case of a 22 year old female with congenital adrenal hyperplasia (CAH) from a 17 alpha hydroxylase deficiency. 17 alpha hydroxylase deficiency is a rare form of CAH which accounts for about 1% of all cases (1). This case highlights the presentation of this rare deficiency and describes management strategies.

Case:
A 22 year old female presented with hypertension, hypokalemia, and palpitations.

Her past medical history was significant for a prior tumor of the right ovary requiring surgical removal. Her only medication was an oral contraceptive pill which was started after her surgery around age 11-12 prior to any previous spontaneous menses. Her family history was significant for her parents being first cousins. She has 3 siblings; her brother has no medical problems. Neither sister has had any pubertal development and are 12 and 19 years old.

Her labs investigations showed hypokalemia (2.4), aldosterone 73 and renin was undetachable. Her LH and FSH were both elevated, estradiol 32, progesterone 34.6, total testosterone less than 0.2, deoxycorticosterone was 53 ng/dL (reference range < 18 ng/dL). A 250 mcg ACTH stimulation test was performed and peak cortisol was 52. A pelvic ultrasound demonstrated uterine hypoplasia and an absent right ovary with a normal left ovary.

Given the clinical presentation with hypertension, hypokalemia, absent adrenarche with low cortisol, testosterone, aldosterone and elevated DOC and progesterone she was diagnosed clinically with CAH from 17 alpha hydroxylase deficiency. Genetic testing showed a homozygous variant of uncertain significance in the CYP17A1 gene confirming the clinical diagnosis.

She was initiated on hydrocortisone 10 mg in the morning and 5 mg in the afternoon. On follow up her blood pressure and potassium normalized. There were no further requirements for potassium supplementation. She continued an OCP containing 35 mcg of estradiol.

Discussion:
This was an interesting presentation of 17 alpha CAH as she never had a period prior to starting an OCP, which when combined with her history of spontaneous hypokalemia and hypertension prompted consideration of 17 alpha CAH. Treatment for hypertension and hypokalemia typically uses corticosteroids or mineralocorticoid antagonists, as evidenced in our case physiologic dosing of hydrocortisone was enough to normalize her blood pressure and potassium. Patients are also treated with hormone replacement therapy.

References:
1. Bulsari K, Maple-Brown L, Falhammar H. Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations. Hormones (Athens). 2018 Mar;17(1):127-132.