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  • Title: Endocrine manifestations of PHACE syndrome.
    Author: Bongsebandhu-Phubhakdi C, Tempark T, Supornsilchai V.
    Journal: J Pediatr Endocrinol Metab; 2019 Aug 27; 32(8):797-802. PubMed ID: 31323007.
    Abstract:
    PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.
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