McCune-Albright syndrome (MAS) is a rare disorder caused by somatic mutations in GNAS gene leading to fibrous dysplasia (FD), cafe-au-lait spots and hyperfunctioning endocrinopathies. The common feature of MAS in girls is peripheral precocious puberty (PP) with the recurrent ovary cysts. Few cases of ovary tumors have been described to date.
8,5 year-old girl with MAS is closely observed in our centre since the age 4,5, when the diagnosis was established based on the combination of FD, cafe-at-late spots and PP with recurrent ovary cysts. Throughout the 4-year-long period of follow-up she hasn't developed another features of MAS. She has FD of lower extremities with one fracture of the left fibula occurred at the age of 4,5. There is no visual deformities but according to x-ray assay the condition of the affected bones are getting worse with years. She had few episodes of vaginal bleeding because of the ovary cysts that had been persisting for the period no longer than a month. At the age of 8,5 her height was 141,2 cm (SDS +2,16), Tanner P1B2, last vaginal bleeding occurred one year ago. During the annual screening for MAS features ultrasound signs of solid formation of the right ovary were found. Results of MRI confirmed existence of the large ovary tumor (4.5x4.3cm) with free fluid in the pelvis. At that moment estradiol was 63 pmol/l, basal levels of LH and FSH were low, central PP was excluded after performing GnRH agonist stimulation test, oncomarkers for ovarian cancer were all low. Since MRI results showed the tumor suspicious for disgerminoma the initial plan was to perform surgical treatment. But when control ultrasound was made after 9 days of the first one, there were no signs of the tumor and the second MRI revealed significant decrease in tumor size and disappearing of the ascitis. Close medical observation with regular pelvic ultrasound was recommended.
In MAS patients it can be difficult to establish treatment approach to the ovary formation, considering tendency to ovary cysts on the one hand and possibility to develop ovary tumors on the other.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology