抽象的な

McCune-Albright syndrome in an 18-month-old female patient: A case report.

Ghidaa Ali Babeer, Abdulmoein Eid Al-Agha*, Rogaya Mohammad Alshugair

Background: McCune Albright syndrome (MAS) is a rare disorder caused by an activating mutation of the stimulatory G-protein alpha subunit (Gsα) gene. The disease is characterized by polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty. When at least two key symptoms are present, the diagnosis of MAS is confirmed. We report the first case of McCune Albright syndrome in Saudi Arabia. Case presentation: An 18-month-old female infant was brought to the pediatric endocrine clinic because of vaginal bleeding for the first time, with all characteristics of menstruation. There was no bleeding from any other orifices and no history of trauma or child abuse. The mother noticed skin pigmentations and that her child was growing faster than her siblings. There was history of limping on the left side at the age of 14 months. On examination, the patient had normal vaginal orifice with intact hymen, bilateral enlargement of the breasts with no pubic hair present and café-au-lait macules on the trunk. All the laboratory findings were normal except an elevated estradiol, decreased serum phosphate, and elevated liver enzymes. Pelvic ultrasonography revealed a unilateral ovarian cyst of the right ovary. The bone scan showed abnormal uptake at the left proximal femur and acetabulum. The confirmatory genetic analysis was not available. The patient was treated with (Letrozole) and bisphosphonate therapy. The patient also received phosphate supplements. Conclusion: Although McCune-Albright syndrome is a rare sporadic disorder, the diagnosis should be highly suspected in cases of vaginal bleeding in young female patients. The manifestations of fibrous dysplasia occured at 14 months which was earlier than other reported cases occurred at 14 months which was earlier than other reported cases.