McCune Albright syndrome - a unique mechanism of sexual development
- Author:
Buendia Frances Manon M.
- Publication Type:Journal Article
- MeSH:
Human;
Female;
Adolescent;
FIBROUS DYSPLASIA, POLYOSTOTIC
- From:
Philippine Journal of Reproductive Endocrinology and Infertility
2005;2(1):26-31
- CountryPhilippines
- Language:English
-
Abstract:
McCune Albright Syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, cafe au lait spots, sexual precocity and hyperfunction of multiple endocrine glands. These manifestations may be explained by a somatic mutation in affected tissues that result in activation of the single transduction pathway generating cyclic AMP (cAMP). We report a case of a 16 year old female, who presented with the following endocrinologic features: menarche at 1 year 8 months old, with breast budding (Tanner Stage III) and appearance of pubic hair (Tanner Stage II) at 3 years of age. She has multiple skeletal deformities and cafe au lait spots on her cheek, nape, and on her flank. both seen on the left side. Management of this case involves a multidisciplinary approach, involving suppression of gonadal function, slowing of skeletal maturation and orthopedic care for possible injury to the skeletal abnormality.
