Although some of the conditions associated with disorders of sexual development are diagnosed at birth or in early childhood (for example, girls with ambiguous genitalia at birth due to congenital adrenal hyperplasia, girls with descended testes due to the complete androgen insensitivity syndrome, children with ambiguous genitalia at birth due to mixed gonadal dysgenesis, partial androgen insensitivity, or true hermaphroditism), some of these conditions are not diagnosed until pubertal development is noted to be abnormal. It is estimated that genital anomalies occur in 1 in 4500 births. Likewise, structural anomalies of the urogenital tract may have required initial corrective surgery in the neonatal period, but further interventions relating to the altered anatomy nevertheless may be required when the young person passes through puberty. This is particularly the case for young women with obstructive genital tract anomalies that may not have been appreciated until menstruation begins. Delays in making these diagnoses can have a negative impact on future fertility.
Virilization at puberty, delayed puberty, or primary amenorrhea may all be presentations of disorders of sexual development. Correct identification of the underlying cause is important to ensure an optimal long-term outcome.
The impact of having a disorder of sexual development also needs careful psychological attention – because issues of fertility and infertility, being normal or abnormal, that is being different from one’s peers – are important issues for adolescents in terms of their psychosocial development (Liao, 2004). Thus, even for those young people in whom the diagnosis and management of a disorder of sexual development was commenced in infancy, issues regarding genital appearance, sexual function, and general well-being are ideally addressed by a multidisciplinary team (Warne et al., 2005). A shift in health-care provision is required in adolescence to ensure that the young person – rather than the parents on behalf of the child – is the focus of care.
The issues for teenage boys and girls with disorders of sexual development are similar. Body image and self-identity, satisfaction with genital appearance and function, and prospects of being fertile or infertile are important. Although there are cultural differences in response to these issues, increasing evidence across cultures reveals that disclosure is important for all individuals.
Conclusions
The timing of puberty has changed over time, with a range of factors influencing its onset and course. Although the knowledge regarding these processes has improved, there are still many triggers and influences that are poorly understood. The end result of a physically mature, fertile individual is the outcome of a developmental process that is coupled closely to the cognitive and psychosocial maturation process. When the pubertal processes fail to progress normally, there are often clear consequences in terms of failure to achieve full sexual and reproductive health as well as mental health. Conversely, failure to achieve psychosocial maturity also has implications for achieving the physical endpoint of a healthy and successful sexual and reproductive life.
Bibliography:
- Boyar RM, Rosenfeld RS, Kapen S, et al. (1974) Human puberty: Simultaneous augmented secretion of luteinising hormone and testosterone during sleep. Journal of Clinical Investigation 54: 609–618.
- Counts DR, Pescovitz OH, Barnes KM, et al. (1987) Dissociation of adrenarche and gonadarche in precocious puberty and in isolated hypogonadotrophic hypogonadism. Journal of Clinical Endocrinology and Metabolism 64: 1174–1178.