The Rare Cause of Hypertension: Undiagnosed 17-α-Hydroxylase Deficiency in an Adult Female

Presentation Number: SAT 362
Date of Presentation: April 1st, 2017

Anara Karaca*1, Nese Ersöz Gülçelik2, Isilay Taşkaldıran3, Hatice Incebiyik4, Tulay Omma1, Tahsin Ozenmis4, Sevde Nur Firat3, Nujen Colak Bozkurt1, Gönül Koç5 and Cavit Culha3
1Ankara Training and Research Hospital, Ankara, Turkey, 2Ankara Training and Research hospital, Ankara, Turkey, 3Ankara Training and Research Hospital, 4Ankara Training and Research hospital, 5Ankara Training and Research Hospital, Ankara, Turkey, Ankara, TURKEY




Predominantly considered the diagnostic domain of the pediatrician, congenital adrenal hyperplasia (CAH) is most frequently associated with 21-hydroxylase deficiency. However, a less common form of CAH, 17-α-hydroxylase deficiency, can stay asymptomatic and undiagnosed until adulthood.

A case

A 32-year old female was referred to endocrinology department with complaints of mild hypertension and hypokalemia in order to investigate causes of secondary hypertension.

Her past medical history included presentation to gynecologist at 15 years of age with primary amenorrhea. A karyotype analysis revealed 46XY and after that her ovaries were surgically removed, and she was started on life time estrogen replacement therapy. Her blood pressure was normal at that time.

However, last few months before presentation, she started to have headaches every day and blood pressure was measured 150/90mmHg and above.

Height 174 cm and BMI: 25.8 kg/m2. Pubic and axillary hair were poor, and breast development was minimal (Tanner stage 3).

On given the patient’s information, an upstream block in steroid synthesis was suspected. Potassium: 2.79 mmol/L(3.5-4.5), serum cortisol: 0.89mcg/dl (6-23), estradiol <20pg/ml and testosterone <10ng/dl (14-76) and ACTH: 62.4pg/ml (0-46), FSH:80, LH:36. Aldosterone: 552pg/ml(30-300)) and renin: 2pg/ml/h (0.2-27). Synacten stimulation test showed cortisol peak 1.5 mcg/dl at 30’. These results were consistent with 17-α-hydroxylase deficiency.

An abdominal CT showed 27x32mm hypodense lesion on the right adrenal gland. 24x12mm hypodense-heterogeneous lesions on confluence point and 12x9mm on the lateral crus of the left adrenal gland. These lesions were <10 HU density.

Dynamic pituitary MRI showed no pathology of the gland.

Sequencing of CYP17A1 demonstrated heterozygosity for c.1283C>T on exon 8. Her mother, but not father, showed heterozygosity for the same genetic location.

The patient was commenced on prednisolone 10 mg/d. Hypokalemia and hypertension resolved rapidly.

Year later repeated abdominal CT demonstrated 59 % reduction of the lesion on the right and 29 % reduction on confluence point and 66 % reduction on lateral crus of the left adrenal gland.

Blood pressure is in normal range with no medications. She is on 5mg/day prednisolone.


To date, there have been only two case reports with 17-α-hydroxylase deficiency in children from Turkey. This is the first case of the adult patient with undiagnosed 17-α-hydroxylase deficiency so far.

The condition should be considered in young women, who fail to enter puberty and have concomitant hypertension.

Although, our patient had a complete 17-α-hydroxylase enzyme deficiency, she had a mild hypertension, which may be the reason in the delay of the diagnosis. This case is a really challenge for the adult endocrinologists, as these conditions are barely seen in adults.



Nothing to Disclose: AK, NEG, IT, HI, TO, TO, SNF, NCB, GK, CC