ESPE Abstracts

Introduction: 17α-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal insufficiency characterized with decreased cortisol and sex steroid biosynthesis, overproduction of ACTH, and increased mineralocorticoids. The overproduction of corticosterone hinders the symptoms of glucocorticoid deficiency and causes sodium retention, hypertension, and hypokalemia in severe cases. Affected 46,XX and 46,XY individuals are phenotypically female in the severe 17OHD.

Case 1: A 15-year-old girl was referred for the absence of puberty and headache. The previous and family history was non-significant except parents being first-degree cousins. On physical examination, her height:162.2 cm(0.05 SDS), weight:43.8 kg(-2.02 SDS), BMI:16.65 kg/m2 (-2.42 SDS). Blood pressure was 147/98 mmHg. The patient was prepubertal and had a typical female genitalia. The endocrinological evaluation revealed; ACTH:563 pg/mL(N:7.2-63), FSH:70 IU/L (N:3.5-12.5), LH:14 IU/L (N:2.4-12.6), progesterone:10.8 ng/mL (N:0.20-27), E2:<5pg/mL, T.testosterone:<2.5 ng/dL, AMH:1.03 ng/mL (N:0.62-7.8),17OH progesterone:0.16 ng/mL (N:0.47-4.32), morning cortisol:0.7 mcg/dL (N:4.8-19.5), DHEA-S:5 µg/dL (N:65-368), 1-4 androstenedione:0.028 ng/dL (N:0-4.71), renin:0.38 ng/mL, Na:143 mEq/L, K:4 mEq/L. Uterus was seen in ultrasonography. Karyotype resulted 46,XX.

Case 2: An 11-year-old girl was referred for hyperpigmentation in the skin folds and the absence of uterus in ultrasonography, while she was on chemotherapy for lymphoma. The patient's parents were first-degree cousins. On physical examination, her height:150.6cm(0.51 SDS), body weight:45kg (0.63 SDS), BMI: 19.84 kg/m2 (0.55 SDS). blood pressure was 123/77 mmHg. The patient was prepubertal and had a typical female genitalia. The endocrinological evaluation revealed;ACTH:199 pg/mL(N:7.2-635), FSH:41 IU/L(N:3.5-12.5), LH:32 IU/L(N:2.4-12.6), progesterone:6.61 ng/mL(N:0.20-27), E2:<5 pg/mL(N:30.9-90.4), T.testosterone:<2.5 ng/dL, AMH:9.40 ng/mL(N:0.62-7.8), 17OH progesterone:<0.01ng/mL(N:0.47-4.32), morning cortisol:0.5 mcg/dL(N:4.8-19.5), DHEA-S:1.94 µg/dL(N:65-368), 1-4 androstenedione:undetectable, renin:<1.1 ng/mL(N:<5.9), aldosterone: <3.7 ng/dL Na:136 mEq/L, K:3.6 mEq/L. Mullerian structures were not seen in ultrasonography, and a structure that may belong to the testis was detected in the inguinal canal and intra-abdominal area. Karyotype resulted 46,XY. The psychiatric evaluation revealed a female gender identity. The diagnosis of 17OHDwas confirmed by molecular analysis. In addition to hydrocortisone treatment, antihypertensive treatment was started in the first patient, and gonadectomy, E2 replacement therapy and blood pressure monitoring was planned for the second patient.

Conclusion: In these two cases with 46,XX and 46,XY karyotypes, 17OHD was identified in the differential diagnosis of hypergonadotropic hypogonadism. The absence of or obscure hypertension and electrolyte imbalance may lead to a delay in diagnosis even in severe cases with 17OHD.