Читать книгу Transition of Care - Группа авторов - Страница 41

Salt-losing CAH due to 21-OHD was diagnosed in a female infant born with masculinization of her external genitalia (Prader III). She was compound heterozygous with an IVS2 splice mutation and a large lesion of the CYP21A2 gene. Medical treatment with GC and MC replacement was initiated. At 6 months of age, the patient underwent surgical reconstruction, including vaginoplasty. The patient has a regular follow-up and is doing well with GC and MC replacement therapy. She had regular linear growth at –0.5 SD. Breast development started at the age of 12 years and menarche at the age of 14, with regular menstrual cycles, without acne or hirsutism. The final height was 1.67 m for a target height at 1.69 m. The first gynecological evaluation was performed at the age of 15. Only a mild clitoromegaly was noted. She was referred to an adult endocrinologist at the age of 18. Her mother accompanied her for the first consultation. Compliance to replacement therapy was good, but the treatment was managed by her mother. The patient had understood that CAH is a genetically inherited lifelong disease, requiring long-term medication and follow-up. She was unable to self-manage stress doses of GC during illness, including self-administration of parenteral hydrocortisone. She did not know exactly about her surgical history and its physical implication. She presented a normal body mass index of 19.4, regular menstrual cycles, and mild acne. Hormonal assessment showed a good hormonal control of the disease. BMD showed a T score at –1.2 SD at the lumbar level and –1.4 SD at the femoral level. She was included into specific programs of therapeutic education on transition and CAH: the pediatric history was recalled, with a specific highlight on surgery, specific goals of medical management of CAH in adulthood were explained, sexuality and fertility were discussed, and autonomy was assessed. She had an appointment with a gynecologist and the psychologist of the department.

During the follow-up, autonomy improved gradually. At the age of 19, she came alone to her medical appointment and was able to self-manage her treatment. This led to a transient period of poor hormonal control with irregular menstrual cycles and occurrence of hirsutism. The parents were worried about this and contacted the adult endocrinologist, but the compliance resumed quickly. At the age of 20, she began her sexual life and took combined oral contraception. Sexual intercourse was reported by the patient as satisfying. Regular follow-up showed a stabilization of BMD. At the age of 28, she came with her boyfriend to discuss their family plans and have genetic counseling. Her boyfriend did not carry mutations of the CYP21A2 gene. Optimized GC and MC regimes during fertility monitoring resulted in a spontaneous pregnancy. She delivered a healthy term newborn.