2 CASE PRESENTATION
A 43 year-old man was referred to the endocrinology department for the suspicion of secondary hypertension. The patient had a history of B-cell non-Hodgkin lymphoma, and in remission for 13 years already after being treated with chemotherapy for six months. Moreover, he was diagnosed with arterial hypertension at the age of five, for which he received bi-therapy by carvedilol 6,25 mg twice daily and lisinopril 20 mg once a day.
For the last two years before presentation, the patient associated dyspnea on exertion (NYHA II). The patient has a history of hypertension in the family. At medical consultation, he reported premature adrenarche with an early pubic hair development. The physical examination revealed short stature (158 cm), and a hypertension with a blood pressure (BP) of 190/120 mmHg. The echocardiography showed a moderate left ventricle concentric hypertrophy, with an ejection fraction of 40%, with no valvulopathy nor dyskinesia. The laboratory results (Table 1) showed a negligible hypokalemia at 3,4 mmol/l (reference value: 3,5–4,5 mmol/l), an elevated ACTH level of 921 pg/ml (reference value: 6–60 pg/ml), with low cortisol level at 117 mmol/l (reference value: 166–507 mmol/l), normal renin level at 9 µUI/ml (reference value: 4,4–46,1 µUI/ml) and low-normal aldosterone level at 22,8 ng/l (reference value: 22,1–353 ng/l). Further investigations demonstrated a minimal elevation of the testosterone level at 30,4 nmol/l (reference value: 8,64–29 nmol/l) and elevated values of dehydroepiandrosterone (DHEAS) at 17,8 µmol/l (reference value: 2,4–11,6 µmol/l), androstendione at 31 ng/ml (reference value < 3 ng/ml, 17–hydroxyprogesterone (17OHP) at 8 ng/ml (reference value: 0,9–3,4 ng/ml) and 11-DC at 30 ng/ml (reference value < 0,5 ng/ml). The results were compatible with CAH due to 11βOH deficiency. The patient confirmed the absence of adrenal insufficiency crisis until the moment of presentation. The abdominal scanner showed bilateral enlarged adrenal glands with voluminous lesions with lipomatous density (right side: 66 x 53 x 88 mm and left side: 55 x 40 x 52 mm) (Figure 1). The scrotal ultrasound and MRI showed bilateral intratesticular lesions compatible with adrenal intratesticular inclusion (Figure 2). The genetic tests revealed a homozygote pathogenic variant of the gene CYP11B1, chromosome 8, exon 8, protein pArg448His.
Treatment by dexamethasone 0,5 mg once per day was initiated with the improvement of laboratory results after two months (the ACTH level decreased at 38 pg/ml, with a low cortisol level of 14 mmol/l, potassium level normalized (4,2 mmol/l) and all the androgens and adrenal precursors decreased to values in reference ranges: testosterone, 14,3 nmol/l; androstendione, 5,3 ng/ml; DHEAS, 6,08 µmol/l; 17OHP, 2,1 ng/ml; 11-DC 2,5 ng/ml (Table 1). At the four year-follow-up, his BP was normalized at 128/84 mmHg under monotherapy (lecarnidipine 20 mg per day). The echocardiography showed normalization of the left ventricle ejection fraction. The testicular ultrasound demonstrated a relative decrease in volume of the testicular lesions. The patient refuses the testicular biopsy.