12th April 2024

Peripheral precocious puberty

This is due to the overproduction of sex hormones; therefore, it is also known as gonadotrophin-independent precocious puberty. This may be due to a cyst or tumour, genetic conditions such as McCune-Albright Syndrome, dysfunction of other endocrine organs such as thyroid or adrenal glands or exposure to exogenous sex hormones such as the contraceptive pill or testosterone gels.

McCune-Albright syndrome (MAS)

MAS is caused by G-activating protein mutation in the adenylyl cyclase-cyclic adenosine monophosphate (cAMP) pathway. It plays an important role in the production and excretion of hormones. The mutation results in the pathway being constantly activated. The mutation occurs after the formation of the zygote; therefore, not all cells have the mutation. The clinical presentation is variable in different tissues.

It is associated with fibrous dysplasia and causes replacement of bone tissue with scar tissue. This may result in pathologic fractures, pain and limp. The degree of clinical manifestation depends on the affected individual. Patients will often have café au lait spots with irregular borders like “coast of Maine.” They become more numerous and darker with age. Other clinical features of MAS include hyperthyroidism, Cushing’s syndrome and growth hormone excess due to the constant activation of the cAMP pathway.