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were lost to follow-up. Introduction of a young person clinic increased the numbers of patients being transferred to specialist adult services but failed to improve engagement [22]. Although there is emerging evidence about how to organize transition, there is a need to identify which patients are at risk of drifting away from endocrine care and to evaluate the impact of a successful transition [22]. A recent study in the UK estimated the numbers of patients with CAH attending specialist adult services between 2 and 5%. Inadequate transition to adult services was emphasized as a potential explanation [15].
During transition between pediatric and adult specific care, a shift in treatment goals is thus needed [25] (Table 1). With adolescence, the patient must gradually assume primary responsibility for his/her care and stop seeing the pediatric endocrinologist. Extensive education of patients and coordination of services among health care providers for adults with CAH remains a major task during this period [7, 10]. The patients’ knowledge of the disease and their treatment should be evaluated [7, 10]. The transition process should be prepared and planned gradually in order to empower the adolescents to assume greater responsibility for their own health care. Successful transition from pediatric to adult health care requires a regular follow-up of patients by a multidisciplinary team including pediatric endocrinologists, urologists, gynecologists, psychiatrists, and adult endocrinologists [58]. All of this could be included in a specific therapeutic education program regarding transition and/or CAH [59]. We had previously reported on the evaluation of the transition process and on the needs expressed by patients with chronic endocrine conditions at transition [60]. This pilot study involving 13 CAH patients has shown that the vast majority of subjects had a good knowledge of their medication. Patients were also asked at the initial visits whether specific medical concerns about adult CAH had been properly addressed. Most women and all men were satisfied with the information received about fertility and genetic transmission to offspring [60].
Management of Transition in Patients with Nonclassic CAH
A subset of patients with nonclassic CAH is diagnosed during childhood with early onset and rapid progression of pubarche or bone age, or in adolescent women with hirsutism. These children are often treated with hydrocortisone to suppress adrenal hormones and prevent rapid advancement of bone age that could adversely affect adult final height. However, lifetime GC therapy is not warranted in these patients. Endocrine Society guidelines stated that treated patients with nonclassic CAH be given the option of discontinuing therapy when symptoms resolve, and that adult men do not require daily GC treatment [58]. Adult males with nonclassic CAH do not require endocrine care, but as evidence-based longitudinal outcome data from a large cohort of patients are not available, some teams considered an endocrine assessment every 5 years [25].
Treatment options vary for adult women, many of whom do not need GC therapy. Women can be treated successfully with combined oral contraceptives or with an antiandrogen treatment (cyproterone acetate or spironolactone) to combat hirsutism and/or acne [25, 58, 61]. Subfertility has been shown to be mild in nonclassic CAH [61]. Nevertheless, GC drug therapy might be indicated at specific times during adulthood, especially in women wishing to become pregnant, as it has been demonstrated that it prevents infertility and recurrent miscarriages [61].
Table 1. Management of patients with classic CAH during transition and adulthood
| Knowledge goals for patients with CAH in transition –Understand that CAH is a lifelong disease that is genetically inherited –Understand the medication regimen, be able to self-manage stress doses of glucocorticoid during illness, including self-administration of parenteral hydrocortisone –Knowledge of surgical history and physical implications for women –Knowledge of infertility risks but also that fertility and satisfying sexual experiences can be achieved |
| Monitoring of the efficacy of glucocorticoid replacement therapy –Early-morning serum concentrations of 17-OHP, Δ4-androstenedione, total testosterone, SHBG approximately every 6 –12 months –Diurnal 17-OHP curve with dried blood spots if available |
| Monit oring of the efficacy of mineralocorticoid replacement –Blood pressure –Plasma electrolytes –Early-morning plasma renin activity concentration |
| Periodic measurements and/or monitoring of the following –Weight –Lipid profile –Blood pressure –Glycemia –Bone mineral density |
| Assessment of male gonadic function and fertility –Testicular adrenal rest by ultrasonography –Sperm analysis –Fertility preservation –Hormonal measurements: total testosterone, LH, FSH |
| Assessment of female gonadic function and fertility –Gynecological care –Clinical and biological hyperandrogenism, menstrual cycle –Sexuality –Hormonal measurements: progesterone, estradiol, FSH |
| Genetic counseling |
| Psychological support |
| CAH, congenital adrenal hyperplasia; 17-OHP, 17-hydroxyprogesterone; SHBG, sexual hormonebinding globulin; LH, luteinizing hormone; FSH, follicle-stimulating hormone. |
At last, considering that 1 mutation responsible for classic CAH is found in nearly 60% of the patients with nonclassic CAH [5, 62], and the high rate of heterozygotes for CYP21A2 mutations in the general population, it is essential to genotype the partner of nonclassic CAH patients carrying a severe mutation, to predict the risk of classic CAH in the offspring and offer genetic counseling [5, 62]. Therefore, transition from pediatric to adult care is also important and warranted in women with nonclassic CAH diagnosed during childhood.
Conclusions
Patients with CAH must experience a transition from pediatric to adult care, because it is a chronic disease with the need of a specific treatment and the risk of various long-term complications. Transition of adolescents to adult care involves changes in treatment goals. Careful monitoring, extensive education, and long-term follow-up should be required