Abstract
IntroductionMcCune-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.Case presentationHere, 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.ConclusionTreatment 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.
Highlights
McCune-Albright syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene
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 syndrome is a complex inborn disorder due to early embryonal postzygotic somatic activating mutations in the GNAS1 gene, which codes for a number of different transcripts by alternative promoters and alternative splicing
Summary
Treatment with bisphosphonates in combination with cabergoline successfully arrested both her dysplastic bone growth and endocrine malfunction, without severe side effects We believe that this approach is a suitable option in patients with McCune-Albright syndrome, especially in order to circumvent surgical interventions that might be of particular risk in patients suffering from polyostotic fibrous dysplasia involving the skull base. Author details 1University Children’s Hospital, Ernst-Heydemann-Strasse 8, D-18057 Rostock, Germany. Authors’ contributions CFC performed the basic organization of the writing and clinical data collection and drafted the manuscript. MM carried out the endocrinological consulting and analyzed and interpreted the patient data regarding the clinical presentation. UK carried out the clinical consulting and analyzed the patient data. Competing interests The authors declare that they have no competing interests
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
