Pubertal disorders in adolescents with developmental disability

Pubertal changes in adolescents with developmental disability usually occur at the same time, and follow the same pattern, as for all adolescents. Disorders of puberty may be associated with particular developmental disabilities or related conditions; see Pubertal disorders associated with developmental disability and related conditions.

If pubertal development does not fall within the expected parameters, investigate and refer for delayed or precocious puberty. Failure of puberty has major consequences, including compromised growth and development, implications for fertility, and osteoporosis as an adult.

Management of delayed puberty in adolescents with developmental disability is as for the general population. For causes and management of delayed puberty in females, see Delayed puberty in females. For causes and management of delayed puberty in males, see Delayed puberty in males. Adverse social consequences of treatment (eg public masturbation, aggression) should be monitored.

Note that adolescents may experience delayed or early puberty if they are markedly underweight or overweight.

For advice on menstrual management in females with developmental disability, see Menstrual management; for advice on sexual expression in adolescents with developmental disability, including masturbation, see Sexuality in people with developmental disability.

Table 1. Pubertal disorders associated with developmental disability and related conditions
Pubertal disorder	Predisposing developmental disability or related condition
precocious puberty	hydrocephalus, intracranial tumours, microcephaly, porencephaly, after infection (meningitis, encephalitis, toxoplasmosis), posttraumatic brain injury, tuberous sclerosis, hypothyroidism
absent or delayed puberty [NB1]	Prader–Willi syndrome, Klinefelter syndrome, Turner syndrome, Noonan syndrome
small or ambiguous genitalia	Prader–Willi syndrome, Bardet–Biedl syndrome, Laurence–Moon syndrome, Klinefelter syndrome, Down syndrome
Note: NB1: Cryptorchidism is more common in boys with delayed puberty, and should be treated (see Cryptorchidism).