Cushing's syndrome in infancy: difficulties in diagnosis and adrenal autotransplantation after therapeutic adrenalectomy

• Published in: The American journal of the medical sciences Vol. 280; no. 2; p. 101
• Main Authors: Avruskin, T W, Tang, S C, Juan, C S, Mestel, A L, Kishida, S, David, R, Drucker, W D
• Format: Journal Article
• Language: English
• Published: United States 01.09.1980
• Subjects: 17-Hydroxycorticosteroids - urine; 17-Ketosteroids - urine; Adrenal Glands - transplantation; Adrenal Hyperplasia, Congenital - diagnosis; Adrenalectomy; Cortodoxone - blood; Cushing Syndrome - diagnosis; Cushing Syndrome - surgery; Diagnosis, Differential; Female; Humans; Hydrocortisone - blood; Infant; Transplantation, Autologous
• ISSN: 0002-9629
• DOI: 10.1097/00000441-198009000-00006

A two-month-old female with clinical manifestations of Cushing's syndrome including mild virilization exhibited an unusual steroid pattern illustrating difficulties in diagnosis of this disorder in infancy. Unequivocal abnormalities were limited to serial elevations of serum cortisol concentration, hyperresponsiveness to ACTH, resistance of serum cortisol to dexamethasone suppression, and elevation of testosterone and dehydroepiandrosterone sulfate concentration. On the other hand, twenty-four hour urinary 17-hydroxysteroid, 17-ketosteroid, free cortisol, and 6B-hydroxycortisol excretion were normal for the age. At laparotomy the adrenals were only minimally enlarged, and their architecture was normal by light microscopy. Following total adrenalectomy, adrenal slices were transplanted into the rectus abdominis muscles. Progressive hypertension developed three weeks later, suggesting adrenal regeneration. The infant then developed acute Salmonella enteritis and expired. At autopsy, the adrenal transplant showed outer cortical preservation, inner zone degeneration, and some growth into the surrounding tissue. The unfavorable outcome notwithstanding, this study adds to existing data in the adult that adrenal autotransplantation may have significant therapeutic value in Cushing's syndrome treated by bilateral adrenalectomy.