McCune-Albright syndrome (MAS) has a special interest for endocrinologists as its pathogenesis results in hypersecretion of hormones in peripheral endocrine tissues. This can be expressed as precocious puberty, mainly in girls, primary hyperthyroidism, growth hormone (GH) and/or prolactin excess, hyperparathyroidism and hypercortisolism. The incidence of GH excess among patients with MAS has been assessed as up to 21%. The pathogenesis of GH hypersecretion in MAS is not completely understood, whereas it seems to be different from the aetiology of acromegaly/gigantism in non-MAS patients. The clinical expression of GH excess can be masked because of precocious puberty or craniofacial fibrous dysplasia, indicating the necessity for screening. Medical treatment is usually the only option in MAS patients with GH excess, as transsphenoidal surgery is usually restricted due to massive thickening of the skull base, whereas radiotherapy is contraindicated due to probable higher predisposition to sarcomatous transformation. The use of bromocriptine, cabergoline and octreotide, or the combination of these, has shown variable results, whereas pegvisomant, a GH receptor antagonist, is a new promising option, although not yet used in patients with MAS.
Assistant Professor, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA; Assistant Professor, Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA. Electronic address:
Background: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a genetic disorder, marked by bone lesions, often affecting the craniofacial skeleton. Pain is a prevalent yet heterogeneous symptom reported by patients with craniofacial FD. Effective treatments are currently lacking, posing a significant clinical challenge to patient care.
*The systematic literature review from 2010-2023 revealed that management strategies for CFD must be personalized, with asymptomatic patients monitored and those with symptoms possibly needing medical or surgical intervention.
*The review emphasizes the importance of a multidisciplinary approach to CFD treatment, as well as the need for ongoing monitoring due to potential complications and the risk of malignant transformation.
Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
Fibrous dysplasia (FD) is a rare, benign, and slowly progressive bone disorder that affects one or more bones, where the normal bone is replaced by atypical fibrous connective tissue, making the bone weak, fragile, and more susceptible to fracture. FD can affect a single bone (monostotic FD) or multiple bones (polyostotic FD). The clinical manifestations and progression of FD vary from one individual to the other.
McCune-Albright syndrome (MAS) is a rare genetic disease characterized by a triad of fibrous dysplasia, café-au-lait spots, and endocrine dysfunction. We present a 15-year-old male patient from Mauritius with MAS having multiple café-au-lait macules (CALM) and suffering from polyostotic fibrous dysplasia involving long bones of bilateral lower limbs and craniofacial deformities without endocrine abnormality. This case highlights the long-term management of MAS in a pediatric patient, focusing on both surgical interventions and the use of denosumab to address bone fragility.
