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A case of neonatal McCune-Albright syndrome with Cushing syndrome and hyperthyroidism
M Yoshimoto1, M Nakayama, T Baba
1Department of Pediatrics, Nagasaki University School of Medicine, Japan.
Insights
This study details a severe neonatal McCune-Albright syndrome case with hyperthyroidism and Cushing syndrome. Despite treatment, the infant succumbed to cardiac failure, highlighting the condition's severity.
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- McCune-Albright syndrome (MAS) is a rare genetic disorder.
- It typically involves café-au-lait spots, polyostotic fibrous dysplasia, and endocrine hyperfunction.
Observation:
- A female newborn presented with MAS, exhibiting cutaneous pigmentation, hyperthyroidism, and Cushing syndrome from birth.
- Skeletal surveys revealed widespread lucencies.
- Endocrinological evaluation showed elevated thyroid hormones (T4, free T4), suppressed TSH, significantly high cortisol, low ACTH, and elevated estradiol.
Findings:
- The infant displayed severe neonatal MAS with multiple endocrine abnormalities.
- Despite treatment with antithyroid drugs and a 3 beta-hydroxysteroid dehydrogenase inhibitor, the patient experienced cardiac failure.
- Autopsy confirmed ovarian cyst, and hyperplasia of the thyroid and adrenal glands.
Implications:
- This case represents a severe, previously undescribed neonatal presentation of McCune-Albright syndrome.
- The findings underscore the critical and often fatal impact of MAS in neonates.
- Further research into early-onset MAS management is warranted.
Abstract:
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.