Clinical characteristics and management of gonadotropin-independent precocious puberty in McCune–Albright syndrome in children – A case series from a tertiary care center, Sri Lanka

Abstract

McCune–Albright syndrome (MAS) is characterized by the triad of monostotic/polyostotic fibrous dysplasia (FD), café-au-lait spots, and precocious puberty. Gonadotropin-independent precocious puberty (GIPP) is frequently the presenting feature among many hyperfunctioning endocrinopathies seen in MAS. We report the clinical profile and management of four cases of MAS who were being followed up in a children’s hospital in Sri Lanka. Patient 1 presented with GIPP along with growth hormone excess at the age of 7 years and was started on spironolactone. Patient 2 presented at the age of 4 years but developed GIPP after 2 years and was started on letrozole. Patient 3 initially presented with thyrotoxicosis and hypophosphatemic rickets at 2 years of age and, after 9 months, developed GIPP and a unilateral ovarian cyst and was started on letrozole. Patient 4 presented at the age of 3 years with GIPP with a unilateral ovarian cyst, and letrozole was started. MAS is a clinically heterogeneous entity with various clinical manifestations, with GIPP being one of the most common presentations. Management options are varied with aromatase inhibitors showing promising results. However, long-term studies are needed to comment on the final heights of children with MAS with GIPP.