Prenatal Cushing's syndrome secondary to nodular adrenocortical hyperplasia with unsuppressed plasma ACTH levels.
We report a newborn girl (36th week of gestation, birth weight 1,054 g) with Cushing's syndrome secondary to nodular adrenocortical hyperplasia with normal plasma ACTH levels. From birth she was hypertensive, hyperglycaemic and slightly hirsuit. Hypercortisolaemia (>1,380 nmol/l) was accompanied by normal plasma ACTH levels (8.64-23.9 pg/ml). A 48-h dexamethasone suppression test decreased plasma cortisol by 35%, indicating some degree of ACTH dependency. However, there was no ACTH rise on CRF test. MRI showed enlarged adrenal glands with a possible cyst on the right; the pituitary gland was normal. At the age of 6 weeks she underwent bilateral adrenalectomy. Histology showed enlarged adrenals with multiple non-pigmented nodules (up to 5 mm) in both glands. However, over the next few weeks she developed liver failure and sepsis. She died at the age of 3 months. Post mortem examination confirmed the diagnosis. Nodular adrenocortical hyperplasia may present at birth with severe Cushing's syndrome and unsuppressed ACTH levels, indicating some degree of ACTH dependency in this condition.
Tillmann
V
V
Tartu University Children's Clinic, University of Tartu, Tartu, Estonia. vallo.tillmann@kliinikum.ee
Mägi
M L
ML
Metsvaht
T
T
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D000315:Adrenalectomy; D000324:Adrenocorticotropic Hormone / Q000097:blood*; D001344:Autopsy; D003480:Cushing Syndrome / Q000150:complications / Q000151:congenital / Q000175:diagnosis* / Q000601:surgery; D005183:Failure to Thrive; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007231:Infant, Newborn
D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone