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Abstract Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This manuscript represents the recommendations of a 1.5 day meeting held in September 2009 to discuss the ideal goals for comprehensive care centers for newborns, infants, children, adolescents, and adults with CAH. Participants included pediatric endocrinologists, internal medicine and reproductive endocrinologists, pediatric urologists, pediatric surgeons, psychologists, and pediatric endocrine nurse educators. One unique aspect of this meeting was the active participation of individuals personally affected by CAH as patients or parents of patients. Representatives of Health Research and Services Administration (HRSA), New York-Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), and National Newborn Screening and Genetics Resource Center (NNSGRC) also participated. Thus, this document should serve as a "roadmap" for the development phases of comprehensive care centers (CCC) for individuals and families affected by CAH.

The article discusses the case of a 23-year-old male who was diagnosed with 21-hydroxylase deficiency (21OHD) congenital adrenal hyperplasia (CAH). Upon examination, the patient was found to have decreased bone mineral density (BMD) as a result of taking high dosages of glucocorticoid (GC) during his adolescent years. Physicians are advised to be aware of glucocorticoid-induced osteoporosis (GIO) during the critical years of infancy and adolescence.

Background. It is well acknowledged that glucocorticoid (GC) replacement can unmask diabetes insipidus (DI) in subjects with hypopituitarism. Objective. To increase the awareness and monitoring for transient and symptomatic DI in children with partial hypopituitarism during periods in which increased GC needs are required. Methods/Case. A 2-month-old female infant with septo-optic dysplasia (SOD; on thyroid and maintenance GC replacement therapy at 8mg/m2/day) developed transient DI during 2 separate episodes of stress (one hypothermia, one febrile) when stress dosing of GC (25mg/m2/day) was instituted. Conclusion. Children not diagnosed with DI during initial evaluation for hypopituitarismmay benefit from rescreening of serumsodiumlevels during acute periods of stress that demand "stress" GC dosing. This will permit treatment and/or increased vigilance for ensuing permanent DI. [ABSTRACT FROM AUTHOR]

Osteogenesis imperfect (01) is a group of genetically diverse connective tissue disorders. Bisphosphonotes therapy to manage bone fragility, a now common medical therapy for 01, can increase the risk of bisphosphonate-associated osteonecrosis of the jaws. In this report, a 6 1/2 year child, who was receiving bisphosphonate therapy for 01, underwent full mouth dental rehabilitation in the operating room while under general anesthesia. The child had numerous teeth restored and multiple primary molar extractions. The patient, who received prophylactic antibiotics intraoperatively, demonstrated no clinical signs of bisphosphonate-associated osteonecrosis when seen at follow-up. Although bisphosphonate osteonecrosis is a possible sequel in children who receive multiple extractions, no clinical signs were manifested in our patient, who required multiple primary tooth extractions along with restorative treatment under general anesthesia. While no dental guidelines have been developed to manage 01 children having been treated with bisphosphonates, consent for extractions should include the risk of bone necrosis and careful post-operative observation to monitor wound healing. (Pediatr Dent 2011:33:349-52) Received February 22,2010 | Last Revision July 28,2010 | Accepted August 25, 2010 [ABSTRACT FROM AUTHOR]