Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). SAM is a rare disease and its prevalence is estimated between 1/100,000 and 1/1,000,000. Somatic activating mutations of the GNAS gene located on chromosome 20q13 encoding the α subunit of the regulatory protein Gsα are responsible for the entity.
Case report: This is a patient referred by her attending physician at the age of 6 years and 5 months for treatment of precocious puberty. She is 1m22 tall and weighs 23 kg. The patient has already presented a pubertal episode at 5 years of life, characterized by pink leucorrhoea. She then presented an S2 status breast augmentation. Developed and pigmented lips, and type P2 pubic hair. The biology shows an E2 increased to 75 pg/ml with the indosable gonadotropins. Pelvic ultrasound shows a stimulated uterus with polycystic ovaries. She also has a unique, irregular patch of café-au-lait skin on her right flank. Bone age is overmature 1 year. The thyroid balance is normal as well as the androgens. treatment with an aromatase inhibitor was initiated.
Discussion: Diagnosis is usually clinical. Evaluation of patients with MAS should be guided by knowledge of all possible impairments and appropriate investigations. Genetic testing is possible, but not routinely available.
Conclusion: MAS is a rare disease. Genetic counseling should be offered although SAM is not hereditary. Malignant transformation of DF lesions is rare and probably occurs in less than 1% of cases.
21 Sep 2023 - 23 Sep 2023