(17.15) Missed Diagnosis of Rare Cause of Congenital Adrenal Hyperplasia 11 Beta Hydroxylase Deficiency

11β-hydroxylase deficiency (11βOHD) accounts for 0.2-8% of cases of Congenital adrenal hyperplasia. This report presents a case of 11-beta-hydroxylase (11OHD) deficiency that was misdiagnosed and treated as Congenital Adrenal Hyperplasia (CAH) from 21-hydroxylase deficiency (21OHD) since childhood.

Case(s) Description :

A 57-year-old female patient with established diagnosis of 21OHD presented to our clinic with uncontrolled HTN, fatigue, upper and lower extremity weakness, and hirsutism. Steroids have been self-discontinued by her for 3 years without any hospitalizations for adrenal crisis. The patient had ambiguous genitalia at birth, which needed corrective surgery at 13 years of age. Physical exam was positive for blood pressure of 140/90mmHg, a stature of 5.1 inches, and 229 Pounds with a BMI of 61kg/M2. Initial Labs showed sodium 138 mmol/L (136-145), potassium 4.1 mmol/L (3.5-5.1), cortisol AM 5.67ug/dl ( 6.2-19.4), TSH 3.150mlu/ml (0.270-4.200), Ft4 1.37 (0.93-1.70), total testosterone 184ng/dl (9-55), aldosterone 19.1ng/dl (< 31), renin 3.4ng/dl ( 0.5-4) and 17 hydroxyprogesterone 13,596ng/dl (normal < 206). The patient's uncontrolled hypertension and absence of adrenal crisis despite being off steroids for three years prompted us to reevaluate CAH. Further lab work revealed an 11-doxycortisol of 41ng/dl (normal < 32) and androstenedione of 1.938ng/ml (0.130-0.820). Given clinical symptoms and biochemical confirmation, we concluded 11OHD was the most likely diagnosis. Due to patient limitations and financial situation, genetic testing was not conducted to definitively confirm a pathogenic mutation in the CYP11B1 gene. Hydrocortisone and spironolactone were started with the improvement of patient symptoms.

Discussion :

Our goal with this case report is to add to the literature by reporting on how rare forms of CAH can be misinterpreted as 21OHD, which is more common. 11OHD is characterized by high levels of 11-deoxycortisol, androstenedione, and testosterone in the serum with low cortisol and corticosterone levels. Hypertension results from mineralocorticoid activity of elevated DOC levels due to CYP11B1 dysfunction. Simultaneously, androgen synthesis pathway is stimulated by high ACTH levels due to cortisol deficiency. Measuring hormones, such as 11-deoxycortisol, DOC, and 17-hydroxypregnenolone, can differentiate 21 hydroxylase deficiency and 11OHD with genetic testing for further confirmation. It is essential to identify and treat these patients early to prevent the adverse outcomes caused by hyperandrogenism or uncontrolled hypertension.