Classen Carl Friedrich, Mix Monika, Kyank Ulrike, Hauenstein Christina, Haffner Dieter
University Children's Hospital, Ernst-Heydemann-Strasse 8, D-18057 Rostock, Germany.
J Med Case Rep. 2012 Jan 24;6:32. doi: 10.1186/1752-1947-6-32.
McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene. The phenotype is very heterogeneous and includes polyostotic fibrous dysplasia, typically involving the facial skull, numerous café-au-lait spots and autonomous hyperfunctions of several endocrine systems, leading to hyperthyroidism, hypercortisolism, precocious puberty and acromegaly.
Here, we describe a 12-year-old Caucasian girl with severe facial involvement of fibrous dysplasia, along with massive acromegaly due to growth hormone excess and precocious puberty, with a prolactinoma. Our patient was treated with a bisphosphonate and the prolactin antagonist, cabergoline, resulting in the inhibition of fibrous dysplasia and involution of both the prolactinoma and growth hormone excess. During a follow-up of more than two years, no severe side effects were noted.
Treatment with bisphosphonates in combination with cabergoline is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions in patients suffering from polyostotic fibrous dysplasia involving the skull base.
McCune-Albright综合征是一种复杂的先天性疾病，由GNAS1基因早期胚胎期合子后体细胞激活突变引起。其表型非常异质，包括多骨纤维发育不良，通常累及面颅骨、大量咖啡斑以及多个内分泌系统的自主功能亢进，导致甲状腺功能亢进、皮质醇增多症、性早熟和肢端肥大症。
在此，我们描述一名12岁的白种女孩，患有严重的面部纤维发育不良，同时因生长激素过多导致肢端肥大症和性早熟，并伴有催乳素瘤。我们的患者接受了双膦酸盐和催乳素拮抗剂卡麦角林治疗，导致纤维发育不良受到抑制，催乳素瘤和生长激素过多均消退。在两年多的随访期间，未发现严重副作用。
双膦酸盐联合卡麦角林治疗是McCune-Albright综合征患者的一种合适选择，特别是为了避免对患有累及颅底的多骨纤维发育不良的患者进行手术干预。
