17 alpha hydroxylase, 1720 lyase deficiency is an autosomal recessive inherited congenital adrenal hyperplasia type which is due to mutation in CYP17A1 gene and characterized with adrenal and gonadal sex steroid deficiency, delayed puberty in girls, XY sex development disorder in boys and hypergonadotrophic hypogonadism in both gender.
Case: 15 year old girl referred to our clinic with vomiting, fatigue and muscle spasms. In her physical examination weight was 2550 centile, height was 7590 centile, The patients blood pressure was 120/70 mmHg, Her breast development was at Tanner stage 1. The bone age was determined 11 years. There was no axillary or pubic hair. The patients laboratory results were glucose: 98 mg/dl K: 2.1 mEq/l, Na: 142 mEq/l, Ca: 9.3 mg/dl, iCa: 0.94 mmol/l (1.161.34 mmol/l), FSH: 59.2 mIU/ml, LH: 64.4 mIU/, E2: <5 pg/ml, total testosterone: <0.025 ng/dl, cortisol: 4.59 μg/dl, ACTH: 129 pg/ml, renin: 2.05 ng/ml per h (0.984.18), aldosterone: 11.01 ng/dl (448 ng/dl), 17 OH progesterone: 0.43 ng/ml, DHEA-S: 1.4 μg/dl, TSH: 0.61 μIU/mL, free T4: 1.49 ng/dl, prolactin: 13.79 ng/ml, progesterone: 2.79 ng/ml, 11 deoksikortisol: 0.81 ng/ml), the blood gases examination results were ph: 7.60, HCO3: 37.3 mmol/l, PCO2: 57.1 mmHg, and base excess: 14. In the suprapubic ultrasonography of the patient, there were no mullerian or wolfian duct. Karyotype was 46XY and SRY(+). Treatment with hydrocortisone at a dose of 15 mg/m2 per day was started. Hormone replacement therapy and laparoscopic gonad examnination was planned. We are waitig for genetic examination result about 17 alpha hydroxylase, 1720 lyase deficiency.
Discussion: 17 alpha hydroxylase, 1720 lyase deficiency is a rare congenital adrenal hyperplasia type which presents with hypertension, hypokalemia and hypogonadism. But this case was referred our clinic with hypocalcemic symptoms due to metabolic alkalosis.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology