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A Case of Neonatal McCune‐Albright Syndrome with Cushing Syndrome and Hyperthyroidism
Author(s) -
YOSHIMOTO M.,
NAKAYAMA M.,
BABA T.,
UEHARA Y.,
NIIKAWA N.,
ITO M.,
TSUJI Y.
Publication year - 1991
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1991.tb11769.x
Subject(s) - medicine , endocrinology , mccune–albright syndrome , autopsy , thyroid , hormone , precocious puberty
. 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 T4 276 nmol/l; free T4 125 pmol/l; TSH <1 mU/l; serum cortisol >2210 nmol/l; plasma ACTH < 10 pg/ml; urinary free cortisol 865 nmol/day; estradiol 0.36 nmol/l. Regardless of treatment with antithyroid drugs and an inhibitor of 3β‐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.