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[Transient neonatal hyperthyroidism in the child of a treated hyperthyroid mother. Subsequent appearance of sexual
Insights
Neonatal hyperthyroidism in an infant born to a mother with Graves disease presented with precocious puberty and skin pigmentation. McCune-Albright syndrome was suspected due to these complex endocrine and developmental findings.
Area of Science:
- Pediatric Endocrinology
- Neonatal Medicine
- Genetics and Rare Diseases
Background:
- Neonatal hyperthyroidism can occur in infants of mothers with Graves disease.
- Maternal Graves disease management involves medications like potassium iodide and carbimazole.
- Transplacental passage of maternal thyroid-stimulating antibodies can cause fetal hyperthyroidism.
Observation:
- A newborn female presented with neonatal hyperthyroidism.
- At four months, the infant exhibited precocious puberty, including breast development and advanced bone age.
- Hormonal analysis revealed elevated FSH and estradiol, later accompanied by elevated prolactin, with persistently low LH and TSH.
- Irregular brown cutaneous pigmentation was noted on the neck and trunk.
Findings:
- The infant displayed a complex endocrine profile suggestive of multiple hormonal dysregulations.
- The combination of hyperthyroidism, precocious puberty, and cutaneous pigmentation raised suspicion for McCune-Albright syndrome.
- Persistent low levels of luteinizing hormone (LH) and thyroid-stimulating hormone (TSH) were observed.
Implications:
- This case highlights the potential for complex endocrine and developmental sequelae in infants with neonatal hyperthyroidism.
- The findings underscore the importance of considering rare genetic syndromes like McCune-Albright syndrome in infants with atypical presentations.
- Further investigation is warranted to confirm the diagnosis and guide long-term management strategies for such multifaceted conditions.
Abstract:
We report a newborn female with neonatal hyperthyroidism, born to a mother with Graves disease treated with potassium iodide and carbimazole. At four months she had some breast development, a bone age advance of one year, and elevated levels of FSH and estradiol. Later on the prolactin level was also raised, while LH and TSH values continued low. Posteriorly, irregular cutaneous pigmentation, brown in colour, was evident on the neck and trunk, and a McCune-Albright syndrome was suspected. The relationship between these conditions and treatment of them is discussed.