Endocrine Abstracts

Background: McCune-Albright Syndrome (MAS) is a rare genetic disorder characterized by polyostotic fibrous dysplasia of the skeleton, "café-au-lait" skin hyperpigmentation, and hyperfunction of endocrine glands. A distinctive feature of the syndrome is the autonomous activation of the ovaries leading to the formation of unilateral, recurring estrogen-producing cysts. Hyperestrogenism in turn causes precocious puberty in girls and anovulation in women with MAS. This work describes a clinical case of MAS in a young female patient with a recurring estrogen-producing ovarian cyst who is planning pregnancy, and discusses the possibility of spontaneous conception against the background of ovulation stimulation using clomiphene citrate and hCG.

Case Presentation: A 21-year-old patient diagnosed with MAS at the age of 3 due to hyperestrogenism, a cyst in the right ovary, and signs of bone fibrous dysplasia. Following diagnosis, she underwent regular examinations to assess disease severity and screen for potential syndrome components. At 6, she started fulvestrant therapy, which was discontinued at 10 due to a fracture of the right femoral neck. At 14, didrogesterone therapy was initiated, leading to a regular menstrual cycle. Currently, the patient is planning pregnancy. The last examination in 2021 at 19 years old showed signs of polyostotic fibrous dysplasia, recurring right ovarian cyst, and hyperestrogenism. Hormonal investigation on the 3rd day of the menstrual cycle showed elevated estradiol levels (1401.6 pmol/l) and reduced gonadotropin levels (FSH - 1.39 IU/l, LH - 0.84 IU/l). Progesterone was 5.2 nmol/l, AMH - 3 ng/ml. Pelvic ultrasound confirmed cystic changes in the ovary with increased volume to 118.5 cm³. During a consultation with a gynecologist, various pregnancy preparation methods were discussed, including the possibility of natural conception. In case of failure, controlled ovulation induction using clomiphene citrate and hCG, or if necessary, IVF or adnexectomy of the affected ovary, was considered.

Conclusion: Currently, adnexectomy of the affected ovary is a well-known and documented method for achieving pregnancy, and there are reports of successful In vitro fertilization in patients with MAS. Given the rarity of the condition, specialists must choose the most appropriate and safe treatment approach in each individual case, sometimes resorting to unconventional methods. For instance, the use of clomiphene citrate followed by hCG as an ovulation trigger could be a potential strategy to overcome anovulation and achieve pregnancy in women with MAS suffering from infertility due to unilateral recurring estrogen-producing cysts.