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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.