Clinical characteristics and management of Gonadotrophin Independent Precocious puberty (GIPP) in McCune Albright Syndrome (MAS) in children- Mini review from a tertiary care Centre- Sri Lanka

Abstract

Abstract Background McCune-Albright syndrome (MAS) with a prevalence between 1 in 100,000 to 1in 1,000,000 has a clinical spectrum characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café au lait spots, and precocious puberty (1–5). Gonadotrophin Independent Precocious Puberty (GIPP) is a prominent hyperfunctioning endocrinopathy and is frequently the presenting feature (10). Here we report four cases of MAS who are actively being followed up in a leading Children’s Hospital in Sri Lanka.Case presentation In our cohort of 4 patients, 2 patients are boys, patient 1 and 2respectively. Patient 1 initially presented with features of polyostotic fibrous dysplasia and found to have GIPP at the age of 7 years and started on Spironolactone. He also has hyperprolactinemia, growth hormone excess and hypophosphatemic rickets. Patient 2 presented with polyostotic fibrous dysplasia but developed GIPP two years after diagnosis and started on Letrozole. Additionally, he has hypophosphatemic rickets and hyperprolactinemia. Patient 3 presented with thyrotoxicosis and developed GIPP nine months later for which she was started on Letrozole. She also has hypophosphatemic rickets. Patient 4 recently presented with GIPP for which she Letrozole was started.Conclusion Management options for GIPP are varied with aromatase inhibitors showing promising results in various studies (2, 3, 11, 13–17). However long-term studies are needed to comment on final heights of these cohort of patients with MAS as they have concurrent endocrinopathies and bony deformities (18, 21). It’s also important to follow them up regularly for the development of other hyper functioning endocrinopathies and other clinical manifestations.