Bongsebandhu-Phubhakdi Chansuda, Tempark Therdpong, Supornsilchai Vichit
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, 1873 Rama 4 Rd., Pathumwan, Bangkok 10330, Thailand, Phone: +66 2 2564951, Fax: +66 89 1574651, E-mail:
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
J Pediatr Endocrinol Metab. 2019 Aug 27;32(8):797-802. doi: 10.1515/jpem-2019-0126.
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.
PHACE综合征是一种罕见的疾病，其特征包括后颅窝异常、颈面部婴儿血管瘤、动脉异常、心脏缺陷、眼部异常以及中线/腹部缺陷。内分泌异常，包括垂体功能减退和异位甲状腺，很少被描述。在本文中，我们回顾了PHACE综合征中所有内分泌异常的发生率、发病情况、临床表现、激素治疗及预后。20例中有11例（55%）存在下丘脑-垂体功能障碍，20例中有10例（50%）存在甲状腺发育异常。对于临床医生而言，全面了解内分泌表现对于早期识别PHACE综合征中的内分泌受累情况以及制定并发症监测和治疗计划非常重要。
