Table 9.
Adrenal tumour panel, clinical presentation, and hormonal profile at the moment of tumour identification in patients diagnosed with CAH (with no genetic confirmation) [51,73,74,75,76,77,78,79,80,81,82,83,84,85,86,87,88,89].
| Reference/ Age/Sex/ Enzyme Defect/ CAH Form |
Tumour → Decision of Surgery (If Any) | Clinical Picture | Hormonal Panel at the Moment of Tumour Evaluation + Other Highlights |
|---|---|---|---|
| [73] 39/M CYP21A2 NA |
BAT: 20 × 20 × 25 cm (L) + 16 × 12 × 15 cm (R) → ↗ size despite therapy → bilateral adrenalectomy | Abdominal distension, discomfort |
ACTH = 42 (normal:6–50) pg/mL 17OHPg = 14,076 (normal: 42–196) ng/dL Testosterone = 506 (normal: 241–827) ng/dL |
| [74] 44/F CYP21A2 SV-CAH |
26 × 24 × 9.5 cm (L) → surgery (exploratory laparotomy and mass excision) | Abdominal distension, nausea, vomiting |
NA |
| [75] 51/M CYP21A2 SW-CAH |
BAT: 31.1 × 18.1 × 16.1 cm (L) + 13.7 × 6.6 × 10.6 cm (R) → bilateral adrenalectomy | Chronic back pain, lower limbs parasthesiasis | The patient was under long-term supra physiological glucocorticoid replacement, without biochemical monitoring |
| [76] 42/M CYP21A2 SV-CAH |
BAT: 16 × 13 × 9.0 cm (L) + 5.3 × 4.3 × 6.9 cm (R) → left adrenalectomy | Recurrent abdominal pain, digestive symptoms | Despite right tumour growth, the patient remained asymptomatic and denied a second surgical intervention |
| [77] 40/M CYP21A2 NC-CAH |
5 × 4 cm (R) 4.1 × 3.9 cm (L) (diagnosis: 9 years after right adrenalectomy) |
Adrenal insufficiency after initial right adrenalectomy | ACTH > 2000 (normal: 5.0–78) pg/mL 17OHPg = 21.13 (normal: 0.31–2.01) ng/mL Testosterone = 1.81 (normal: 2.49–8.36) ng/mL Cortisol = 157.8 (normal: 147.3–609.3) nmol/L |
| [78] 32/M CYP21A2 SW-CAH |
BAT: 6.7 × 4.8 × 2.7 cm (R) + 19.8 × 19.1 × 12 cm (L) → left adrenalectomy → adrenal carcinoma → mitotane (The patient was awaiting for the right adrenalectomy) | Rapidly enlarging BAT | NA |
| [79] 41/M CYP21A2 SV-CAH |
BAT: 4.1 × 2.2 cm (L) + 8.8 × 5.5 cm (R) (incidentally detected during follow-up of testes tumours) → right adrenalectomy → myelolipoma | Incidental imaging diagnosis | ACTH = 80.4 (normal: 9–46) pg/mL 17OHPg = 14 (normal: 0.2–2.3) ng/mL Testosterone = 1.79 (normal: 2.18–9.06) ng/mL Cortisol = 3.75 (normal: 6.2–19.4) μg/dL |
| [80] 58/M CYP21A2 SV-CAH |
10 cm (L) → planned surgery | ACTH = 181 (normal: 0–60) pg/mL 17OHPg = 13,800 (normal: 20–172) ng/dL Testosterone = 6.75 (normal: 2.5–10.63) ng/mL Cortisol = 8.6 (normal: 9.4–26.1) μg/dL |
|
| [81] 61/M CYP21A2 SV-CAH |
10.3 cm (R) with calcifications + 2.9 cm (L) suggestive of myelolipoma → right adrenalectomy | Pressor-dependent shock | High ACTH High 17OHPg The patient had Mullerian structures (prior known with pseudo hermaphroditism |
| [82] 27/M * CYP21A2 SV-CAH |
9 × 8 × 7 cm (L) with calcifications and central necrosis measuring (of 5.5 cm) → left adrenalectomy | Incidentaloma on abdominal ultrasound | Normal ACTH High 17OHPg |
| [83] 50/M CYP21A2 SW-CAH |
BAT with septic lobular appearance of 10 × 11 × 6 cm (L) + 14 × 19 × 11 cm (R) → right adrenalectomy | Polakidisuria | ACTH = 37.5 (normal: 1.6–45) pg/mL 17OHPg = 0.6 to 1.5 (normal: 0.2–1.4) ng/mL Testosterone = 1.7(normal:1.3–7.7) ng/mL Cortisol = 0.24 to 0.5 (normal: 0.5–3.5 ng/mL) |
| [64] 42/M CYP21A2 SV-CAH |
Bilateral thickening with left predominance <1.3 cm | NA | |
| [51] 56/M CYP21A2 NC-CAH |
BAT: 1.2 cm (L) + 0.9 cm (R) | Abdominal pain | 17OHPg = 14 nmol/L |
| [51] 66/M CYP21A2 NC-CAH |
BAT of 1.5 cm the largest | 17OHPg = 3.4 nmol/L | |
| [51] 48/F CYP21A2 NC-CAH |
BAT: 1.5 × 2 cm (L) + “minor” tumours (R) | Abdominal discomfort | 17OHPg = 6.9 nmol/L |
| [51] 53/F CYP21A2 carrier |
BAT: 3.3 × 3 cm (L) + 1.3 × 3.3 (R) | Abdominal pain | 17OHPg = 2.3 nmol/L |
| [84] 68/F CYP21A2 NC-CAH |
BAT: 6.6 × 9.7 × 10.5 cm (L) + 3 × 7.6 × 6.8 cm (right) → myelolipoma diagnosis was based on CT findings | Chest discomfort, virilization, hirsutism, excessive labial folds | ACTH = 266.7 (normal: 7.2–63.3) pg/mL 17OHPg = 25,018 (normal: 15–70) ng/dL Testosterone = 1195 (normal: 60–80) ng/mL Cortisol ** = 2.8 (normal: <1.8) µg/dL |
| [85] 36/M NA NA |
left retroperitoneal mass of 30 × 23.6 × 16.7 cm → tumour developed despite of adequate CAH management → tumour resection | Abdominal pain, difficulty breathing | NA |
| [86] 37/ *** NA SW-CAH |
BAT: 11.8 × 8.8 cm (L) + 5.9 × 2.4 cm (R) → bilateral adrenalectomy & hysterectomy with bilateral salpingo-oophorectomy | Abdominal distension, hypotension, virilization | ACTH = 166 (normal: 6–50) pg/mL 17OHPg = 4356 (normal: 285) ng/dL Testosterone = 737 (normal: 2–45) ng/dL Cortisol = 78.5 (normal: 3.7–19.4) mg/dL |
| [87] 36/M NA SW-CAH |
Adrenal mass of 23 cm (L) + adrenal nodule of 2.5 cm (R) → the tumours were incidentally found → adrenalectomy → glucocorticoid/mineralocorticoid treatment | Admission for dyspnoea (pulmonary embolism) | ACTH = 128 (normal: 6–50) pg/mL 17OHPg = 17,300 ng/dL Myelolipoma was diagnosed based on CT findings |
| [88] 39/M NA SW-CAH |
BAT: 18 × 13.4 × 12cm (L) + 7.3 × 2.7 × 5.8 cm (R) → bilateral adrenalectomy due to abdominal pain | Salt craving, hyperpigmentation, small testes, abdominal pain | 17OHPg = 8230 (normal < 220) ng/dL |
| [89] 26/F **** CYP17A1 hypertension |
BAT: 6.5 cm (L) + 3 cm (R) → left adrenalectomy due to asymmetric enlargement and abdominal pain | Hypertension, Tanner 1 | ACTH = 185 (normal: 6–76) pg/mL 17OHPg < 10 (normal: 20–100) ng/dL Testosterone = <0.02 (normal: 0.084–0.481) ng/mL Cortisol = 0.9 (normal: 5.4–28.7) μg/dL |
Abbreviations: ACTH = Adrenocorticotropic Hormone; 17OHPg = 17-hydroxyprogesterone; BAT = bilateral adrenal tumours; CAH = congenital adrenal hyperplasia; CT = computed tomography; F = female; L = left; NA = not available; NC = non-classical; M = male; R = right; SV = simple virilizing; SW = salt-wasting (of note, “cortisol” means plasma morning cortisol); * = phenotypically male + 46,XX karyotype; **after 1 mg dexamethasone suppression test; *** born female with ambiguous genitalia identifying as male; **** phenotypically female + 46,XY karyotype.