Context: 11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia. Untreated, this enzyme deficiency leads to virilization, hypertension, and significant height impairment.
Patient: We describe a patient from abroad who first presented to us at age 7 years for follow-up of ambiguous genitalia. He had been investigated and treated in Pakistan at 3-years-of-age following presentation for bilateral cryptorchidism. He was found to have 46, XX karyotype, elevated 17-OH progesterone and was diagnosed with congenital adrenal hyperplasia. In Pakistan, the patient had abdominal hysterectomy, bilateral salpingoophrectomy, and was started on corticosteroid replacement. At 7 years, shortly after immigrating to Canada, height was 138 cm and BMI 19.3 kg/m(2) (+2.9 SDS and +1.7 SDS, respectively, male growth chart) and blood pressure was greater than the 99th percentile for age and height. The patient had Prader stage III - IV genital anatomy. Bone age was significantly advanced, yielding a severely compromised predicted final adult height. Biochemical evaluation was consistent with 11β-hydroxylase deficiency congenital adrenal hyperplasia.
Intervention and outcome: In an attempt to improve final height, in addition to glucocorticoid replacement, this patient was treated with recombinant growth hormone and a third generation aromatase inhibitor (Letrozole) with an improvement in final height attained as compared with predicted height.
Conclusions: This case of a 46,XX patient raised as male with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency highlights a number of unique and difficult treatment challenges; specifically, the role of new therapeutic options for optimization of growth in the context of prior suboptimal disease management.
Keywords: Aromatase Inhibitor; Congenital Adrenal Hyperplasia; Growth; Growth Hormone; Steroid 11-beta-Hydroxylase.