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Sexuality and fertility in women with classic CAH have been described for many years as impaired, especially for the patients with the SW form. This results from several issues such as biological (poor hormonal balance), mechanical (related to surgeries), and psychological factors [2, 23].

Menstrual irregularities and anovulation are frequent in CAH women, affecting from 30 to 70% of women [15, 17]. Menstrual cycle control represents therefore an important therapeutic target in these patients. Several factors (androgen and progesterone overproduction, prenatal exposure to sexual steroid) are suspected to disturb the reproductive axis in CAH females [24]. A recent study has described luteinizing hormone (LH) pulsatility in women with classic CAH [24] and showed 2 different profiles in CAH women: one group of patients had LH pulsatility patterns similar to the controls; the other one had lower LH pulse amplitude and frequency, and presented more frequently with menstrual cycle disturbances, higher 17-hydroxyprogesterone, testosterone, progesterone, and androstenedione levels, and lower follicle-stimulating hormone levels. This study thus demonstrated that hormonal control is a key factor of gonadic function of CAH women. Optimized GC and MC regimens should thus be an important concern in CAH adolescents and women in order to avoid hirsutism and to obtain regular menstrual cycles. Antiandrogen treatment, such as a combined oral contraceptive, cyproterone acetate, should be considered to improve symptoms and avoid overtreatment by GC if symptoms persist [25].

The consequences of the feminizing surgery are also an important concern during transition. Surgery can include clitoroplasty, vaginoplasty, and labioplasty [26]. Urinary incontinence, vaginal stenosis and inadequate introitus, poor cosmetics, anorgasmia, and painful intercourse have been reported in adults and currently remain relevant issues [18, 26]. It is well established that there is a relationship between sexual activity and vaginal function; thus, genital surgery may result in sexual dissatisfaction. Surgical techniques for genital feminization in female CAH patients have nonetheless evolved significantly over time. There are nowadays new surgical procedures which, for instance, preserve innervation and clitoral sensation in order to conserve erotic sensitivity and orgasmic capacity secondary to the clitoroplasty [27] and improved vaginoplasty techniques [28]. Moreover, to date, the choice of the timing of the surgery (early or late surgery) remains therefore a matter of debate [29]. Unfortunately, there are few data in the literature about the outcomes of this surgery in terms of sexual function, and the outcomes of the current techniques will take time to emerge. In a cohort study of 138 CAH patients, Arlt et al. [15] have shown that 92 women had undergone genital reconstruction, 43% of whom had more than 1 surgery, and 23% during adulthood. Among these patients, 46% stated being unhappy about their sexual life. A French cross-sectional study showed that despite expert medical and surgical care by physicians dedicated to this rare disease, women with CAH still suffer major limitations in their sexual function and reproductive life [23]. In this study, 37% of CAH women said they never had heterosexual intercourse with vaginal penetration, and for those who had, 81% experienced pain during vaginal penetration. Sexual functioning was much lower in CAH women than controls and lowest in CAH women with high Prader stages. In a more recent review including 151 patients with genitoplasty, assessments of cosmetic results have shown that the majority of patients (between 60 and 94%) reported good or excellent outcomes [26]. When the physician was the person who assessed the cosmetic outcomes, 59–94% reported satisfactory results [26].

The fertility rate, i.e. live births per woman, is significantly lower in CAH women than in the general female population [30]. On the other hand, pregnancy estimates are more encouraging when examined only in the patients actively trying to conceive [31]. In a UK cohort of 103 CAH women among whom 25% wanted to conceive, the pregnancy estimate was 54% [15]. Pregnancies were most often spontaneous, obtained after a good hormonal control with optimized GC and MC regimens. Recently, a large population-based epidemiological study on psychosocial outcomes in CAH patients was conducted in Sweden that showed that women with the SW form were less often married (OR 0.5, CI 0.2–1.1) and had fewer partnerships compared with controls. CAH patients were less likely to have biological children than controls (OR 0.3, CI 0.2–0.3) and when assessing women with the SW and SV forms, it was still significantly decreased (SW OR 0.05, CI 0.0–0.1; SV OR 0.4, CI 0.2–0.7) [32].

The transition period from pediatric to adult health care is the time of sexual maturation that occurs during adolescence. Thus, provision of detailed CAH-related education by the pediatric practitioner to the patient before the transfer to an adult practitioner is of importance. In particular, for women with CAH, comprehension of their genital anatomy and surgical history is essential. Better sexuality, fertility, and fecundity in CAH women will be largely dependent on surgical advances in genital reconstruction, earlier treatment, optimized compliance to therapy, availability of psychological support, organization of transition from pediatric to adult specialist care, procuration of menstrual cycle control and sexual well-being.