Treatment protocols for growth hormone-secreting pituitary adenomas combined with craniofacial fibrous dysplasia: A case report of atypical McCune-Albright syndrome.

Jia Xu,Lai Gui,Ying Chen,Xi Li,Jian-Feng Liu,Meng Wang,Chang-Sheng Lv

doi:10.3892/etm.2014.1792

Abstract

McCune-Albright syndrome (MAS) is a rare, post-zygotic (non-germline) disorder, characterized by hypersecretory endocrinopathies, fibrous dysplasia of the bone and café-au-lait macules. The most common endocrine dysfunction is gonadal hyperfunction; thus, hypersecretion of growth hormones (GHs) as a manifestation of endocrine hyperfunction in MAS is rarely reported. MAS affects both genders, although the majority of cases have been reported in young females. Atypical presentations of MAS, with only one or two of the classic symptoms, have been previously described, but remain particularly challenging due to the lack of a diagnostic phenotype. In patients with atypical MAS, analysis of mutations in the gene of the α-subunit of the stimulatory G-protein is limited; thus, diagnosis is based on clinical judgment. In the present study, a male with polyostotic fibrous dysplasia and GH-secreting pituitary adenomas, diagnosed with atypical MAS, was reported. The pituitary adenoma was effectively treated with radiotherapy and the patient underwent surgery for the polyostotic fibrous dysplasia, with marked improvements observed in appearance.

Highlights

McCune‐Albright syndrome (MAS) is a rare, sporadic condition with an estimated prevalence between 1/100,000 and 1/1,000,000 [1], which is characterized by the following three features: Fibrous dysplasia, café‐au‐lait macules and endocrine hyperfunction [2]
The treatment of growth hormones (GHs)‐secreting pituitary adenoma is the first step in MAS treatment, which remains to be a challenge for clinicians
Radiotherapy and medication may be used for the treatment of MAS; effective treatment protocols of GH‐secreting pituitary adenoma may be difficult to select due to the complexity of MAS

Summary

Introduction

The most effective treatment of atypical MAS with GH‐secreting pituitary adenoma is surgical resection, the treatment protocols are varied depending on the complexity of the symptoms. A case of atypical MAS associated with GH‐secreting pituitary adenoma was reported, with effective management using radiotherapy and surgery. At 12‐years of age, the patient lost vision in the left eye and was diagnosed at a different hospital with ‘skull structural abnormalities’, but received no treatment. At 21‐years of age (height, 198.3 cm), the patient was admitted to Peking Union Medical Hospital and was diagnosed with a pituitary adenoma, for which the patient received radiotherapy for 26 days. The patient sought treatment at the Peking Union Medical Hospital. Since the polyostotic fibrous dysplasia was associated with the pituitary adenoma, a diagnosis of atypical MAS was considered.

Discussion

Dumitrescu CE and Collins MT