Abstract
Context11β-hydroxylase deficiency is the second most common form of congenital adrenal hyperplasia. Untreated, this enzyme deficiency leads to virilization, hypertension, and significant height impairment.PatientWe 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/m2 (+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 outcomeIn 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.ConclusionsThis 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.
Highlights
Congenital adrenal hyperplasia (CAH) due to 11βhydroxylase (11β-OH) deficiency is the second most common cause of CAH [1]
Similar to CAH due to 21-OH deficiency, optimization of height in CAH due to 11β-OH deficiency remains a difficult balance between suppressing adrenal androgen production with corticosteroids and minimizing iatrogenic effects of supra-physiologic corticosteroid treatment
We report a case of a male-identifying, 46, XX, 11βOH deficiency CAH patient who presented to our tertiary care center recently after immigration
Summary
Congenital adrenal hyperplasia (CAH) due to 11βhydroxylase (11β-OH) deficiency is the second most common cause of CAH [1]. It accounts for approximately 5-8% of all CAH cases and is caused by mutations in the CYP11B1 gene [2]. The deficiency in 11β-OH results in a buildup of 11-deoxycortisol and 11-deoxycorticosterone. Similar to CAH due to 21-OH deficiency, optimization of height in CAH due to 11β-OH deficiency remains a difficult balance between suppressing adrenal androgen production with corticosteroids and minimizing iatrogenic effects of supra-physiologic corticosteroid treatment. Despite optimal treatment final adult height is often impaired [3]
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