Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.

Abstract

Objective: To describe the follow-up of girls with peripheral precocious puberty (PPP) due to McCune-Albright syndrome (MAS).

Subjects and methods: Data from 18 females, including anthropometric and reproductive outcomes, were evaluated. Genetic analysis was performed on DNA from peripheral leukocytes via digital PCR.

Results: Clinical manifestations of PPP were isolated thelarche, thelarche plus vaginal bleeding, or isolated vaginal bleeding in 44.5%, 33.3%, and 22.2%, respectively, at an early age (3.3 ± 1.6 years). At diagnosis, basal LH and FSH levels were suppressed in 100% and 72.2% of cases, respectively, and estradiol ranged from prepubertal to high levels. The mean bone age advancement was 2.3 ± 1.9 years. Treatment included medroxyprogesterone acetate, tamoxifen, aromatase inhibitors, and ketoconazole, individually or in combination for 5 ± 2.14 years, with partial or complete control of puberty. Secondary central precocious puberty was diagnosed in 57.1% (8/14) of the patients. Fibrous dysplasia was diagnosed in 11 patients and managed with bisphosphonates for those with bone pain. The mean adult height was 155.1 ± 8.7 cm (-1.17 SDS) in 10 patients. Menarche occurred at a mean age of 12.2 ± 1.04 years, 70% reported regular menstrual cycles and only one female desired pregnancy. Genetic diagnosis was established in 52.9% (9/17) of the patients.

Conclusion: Medical treatment of PPP was effective in girls with MAS and led to preservation of adult height potential, and reproductive function was normal when patients reached adulthood.