A 6-year-old girl was brought to her pediatrician for vaginal bleeding, breast enlargement, brown patches on her cheeks, back, and trunk. Can you diagnose this patient?
A 6-year-old girl was brought to her pediatrician for vaginal bleeding. Her parents noticed a recent enlargement of her breast tissue and were concerned that she might be experiencing very early onset of puberty. She also had a number of brown, hyperpigmented cafÃ©-au-lait patches on her cheeks, back, and trunk. The girl had always been noticeably different from her peers and they thought this change might lead to teasing at school.
Can you diagnose this patient? Use the differential builder in VisualDx.
B. McCune-Albright syndrome
C. Functional ovarian tumor
D. Cushing syndrome
See the next page for the answer.
The correct answer is B) McCune-Albright syndrome.
McCune-Albright syndrome, also known as Albright syndrome, consists of polyostotic fibrous dysplasia, cafÃ©-au-lait spots, and gonadotropin independent precocious puberty. Affected individuals may have other endocrine abnormalities. Fibrous dysplasia can involve any bone but usually affects the long bones, pelvis, and scapula. Sclerosis of the base of the skull is also common. Fibrous dysplasia ranges from asymptomatic and detectable only by bone scan, to markedly disfiguring with development of pathologic fractures or nerve impingement.
The abnormality in McCune-Albright syndrome is a sporadic post-zygotic mutation in the gene coding for the alpha subunit of the stimulatory G protein resulting in mosaicism of the mutation in affected tissues.
For more information about this diagnosis, including ICD 10 codes, visit VisualDx.