A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism.
We describe a female newborn infant with McCune-Albright syndrome. In addition to the cutaneous pigmentation, she had apparent manifestations of hyperthyroidism and Cushing syndrome since birth. X-ray examinations showed many scattered lucencies in multiple bones. Endocrinological findings were as follows: serum T 4 276 nmol/l; free T 4 125 pmol/l; TSH less than 1 mU/l; serum cortisol greater than 2210 nmol/l; plasma ACTH less than 10 pg/ml; urinary free cortisol 865 nmol/day; estradiol 0.36 nmol/l. Regardless of treatment with antithyroid drugs and an inhibitor of 3 beta-hydroxysteroid dehydrogenase, the patient died of cardiac failure at the age of 4 months. Autopsy findings included a follicle cyst in the right ovary and multinodular hyperplasia in the thyroid and both adrenals. To our knowledge such a severe neonatal form of McCune-Albright syndrome has not been described in the literature.
Yoshimoto
M
M
Department of Pediatrics, Nagasaki University School of Medicine, Japan.
Nakayama
M
M
Baba
T
T
Uehara
Y
Y
Niikawa
N
N
Ito
M
M
Tsuji
Y
Y
D000302:Adrenal Cortex / Q000503:physiopathology; D003480:Cushing Syndrome / Q000150:complications* / Q000151:congenital / Q000175:diagnosis / Q000503:physiopathology; D005260:Female; D005359:Fibrous Dysplasia, Polyostotic / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D006801:Humans; D006980:Hyperthyroidism / Q000150:complications* / Q000151:congenital / Q000175:diagnosis / Q000503:physiopathology; D007231:Infant, Newborn; D010859:Pigmentation Disorders / Q000150:complications* / Q000151:congenital; D010903:Pituitary Gland, Anterior / Q000503:physiopathology; D010912:Pituitary-Adrenal Function Tests; D013960:Thyroid Function Tests; D013961:Thyroid Gland / Q000503:physiopathology