Background: Carney complex (CC) is a rare, dominantly inherited condition due to mutations of the tumour suppressor gene PRKAR1A. Endocrine manifestations include: Cushings syndrome (CS) due to primary pigmented nodular adrenocortical disease, pituitary adenomas, testicular neoplasms, thyroid tumours, and ovarian cysts. The management of some of these tumours is controversial.
Objective and hypotheses: To describe conservative management of CC.
Method: The male patient presented age 7 years with a painful tibial lesion, subsequently found to be an osteomyxoma. Age 10 years a myxoma was excised from his neck. Genetic testing demonstrated a mutation of the PRKAR1A gene (frameshift mutation c.18delC.).
Results: At referral age 12.5 years growth and puberty were normal: Ht SDS 1.29, BMI SDS 2.08, target Ht SDS 0.13, Tanner stage A2, G4, TV 8 ml/8 ml. Pituitary MRI, baseline pituitary profile, thyroid ultrasound (US), and echocardiogram were normal. 24-h urinary cortisol:creatinine ratio on 3 consecutive days was modestly elevated: 30, 34, and 35 nmol/mmol (NR 025), but then normalised. Multiple, bilateral, large cell calcifying Sertoli cell tumours were demonstrated on testicular US age 13 years and have been monitored by US every 6 months. Appearances are unchanged 1.5 years later. Age 14 years he complained of depressive symptoms. BMI SDS increased 0.69 and height SDS decreased 0.25 over the preceding 3 months. Diurnal rhythm of cortisol secretion was lost: 0900 h, 239 nmol/l; midnight, 192 nmol/l; 0900 h, 162 nmol/l; midnight, and 179 nmol/l. ACTH was undetectable. 0900 h cortisol was 144 nmol/l following dexamethasone 2 mg at 2300 h. Adrenal vein sampling indicated focal right-sided origin of cortisol excess. Right-sided retroperitoneoscopic adrenalectomy restored normal, diurnal patterns of ACTH and cortisol secretion.
Conclusion: This patient has been managed conservatively, in accordance with the familys wishes, to preserve testicular and adrenal function, with close surveillance of testicular appearances and cortisol profiles. This is approach is controversial, with bilateral orchidectomy and adrenalectomy being advocated by some.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology