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.