On Sunday, May 2, 2010, CWPW's Pediatric Endocrinologist, Alicia A. Romano, MD, served as the Chairman of the CME symposium entitled "Improving Care for Patients with Noonan Syndrome: Guidelines for Pediatricians". Dr. Romano spoke about growth and endocrine issues in Noonan syndrome and current recommendations. The symposium was held at the PAS meeting in Vancouver, British Columbia, Canada.
The contents of this symposium were based upon an expert panel that was convened in October 2008. The symposium faculty participated in the expert consensus meeting and discussed recommendations that were developed at the meeting.
The contents and recommendations of the consensus meeting will be published in Pediatrics in the fall of 2010. The title of the article is: “Special Article: Noonan Syndrome: Clinical Features, Diagnosis and Management Guidelines”.
Noonan syndrome is a clinically heterogeneous condition characterized by distinctive craniofacial features, congenital heart defects, short stature, cryptorchidism in males, and a wide range of other co-morbidities. Described in 1962 by Jacqueline Noonan, it has a reported incidence of between 1 in 1000 to 1 in 2500 live births. Approximately 60% of persons with Noonan syndrome have an identifiable mutation. Thus, it remains a clinical diagnosis. Germline mutations in six different genes in the Ras/MAPK signal transduction pathway have been shown to cause Noonan Syndrome: PTPN11 (~50%), SOS1 (~10%), RAF1 (~10%), KRAS (~1%), NRAS (< 1%), and SHOC2 (~2.5%). Prenatal and postnatal genetic tests for Noonan syndrome are currently available. The clinical manifestations of Noonan syndrome are extremely heterogeneous, and this heterogeneity can be at least partially ascribed to the individual gene and the type of mutation involved.
Although hypothyroidism is no more common in patients with Noonan syndrome than in the general population, approximately 50% to 70% of affected individuals have short stature. Puberty is typically delayed, and the pubertal growth spurt is diminished. Analysis of adult height data indicates that growth hormone therapy for patients with Noonan syndrome appears safe and results in significant height gains.
Recognizing that Noonan Syndrome is a clinically and genetically heterogenous condition characterized by congenital heart disease, distinctive facial features, short stature and many other potential comorbidities, patients do require multidisciplinary evaluations and regular follow-up care for their identified issues. |
