Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

Abstract

<p/> <p>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.</p

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

“…There were complaints about difficulties in convincing healthcare workers to observe the presented emergency documents. These findings support the need for optimal crisis prevention strategies (14,16), including education, training, empowerment and support of all parents and patients (9,26,29), clear emergency documents (7,30), easily accessible information for professionals (31), and the sensitization of healthcare workers (9,16,27,32). The high number of cases without parenteral application of a glucocorticoid in spite of repeated vomiting might be reduced if -instead of i.m.…”

“…Parents have to cope with the task of constant alertness and responsibility (28), without being overprotective. In case of emergency, well-informed parents may be confronted with health professionals who are inexperienced in managing the rare condition of an imminent adrenal crisis (7,8,9,27).…”

“…Medical identification should always be carried by the patient (6,7,8). Information and education of CAH patients and their caregivers regarding clinical symptoms that indicate an imminent adrenal crisis and appropriate reactions are regarded as highly important (9,10).…”

The experience of women living with Congenital Adrenal Hyperplasia: impact of the condition and the care given

“…Patient‐centred care is important in rare and complex disorders such as CAH, and some ideal goals for developing multidisciplinary comprehensive care centres have been proposed . However, patients’ voices are missing in current research .…”

Gynecological challenges in the diagnosis and care of patients with DSD: The role of the obstetrician gynecologist in the multidisciplinary approach to the patient

“…Many patients with CAH may struggle with irregular menses and acne. The gynecologist can discuss combination oral contraceptive pills as a strategy to help to decrease hyperandrogenemia in addition to corticosteroid and mineralocorticoid therapy (Auchus et al, ). If the patient has had a prior feminizing genitoplasty, the gynecologist can help to teach the patient vaginal dilation techniques for introital stenosis or determine whether a revision vaginoplasty is indicated.…”