Adult medical follow-up

About one-fifth of adults is just below the expected height. 

There are no reports of related endocrine issues such as shortage of growth hormone or abnormal functioning of the thyroid gland. Some become somewhat overweight as time goes on, but excessive weight gain is not often a problem in most with PTHS. 

Mild microcephaly is seen in a quarter of adults. Adult facial characteristics do not change much from those in in infancy.

Feeding problems are not common in adults with PTHS. Problems with drinking and swallowing solids is seen in about 10%. Constipation is very common and occurs in three-quarter of adults (see Section 5). Gastroesophageal reflux is present in one‐third and usually responds well to anti‐reflux medication. 

Flat feet (pes planus) and turned out feet (pes valgus) are seen in half of the adults. These should be checked for as orthopaedic shoes or other orthotic devices, physiotherapy, or other specific treatments may be needed (R26). When an adult with PTHS has limited mobility, physiotherapy is required to prevent the mobility to become permanently affected (contractures). 

Other, usually less important problems can be overriding toes, scoliosis, and limited thumb mobility. 

Although frequent infections are not common, urinary tract infections can be missed or manifest as unusual behaviour changes (R27).

Adults with PTHS have widely spaced teeth. Many grind their teeth and drooling is seen often. A protruding jaw (prognathism) may develop and can cause problems with chewing. Advice from a speech therapist may be helpful (R28). If there are unexplained behavioural changes, the teeth should be checked as they could be a cause of pain.

In about a third of those with PTHS genital differences are seen such as undescended testes (cryptorchidism), a small penis, and unusual labia. Adult males should be checked for cryptorchidism, as this may have been missed when they were younger. If present, management is as in the general population (R29).

It is hard to give an accurate idea of the life span in PTHS as only few older people have been diagnosed, and most are still young adults. It is thought that they will have a typical life span. Three adults are known who have developed a form of cancer: two with Hodgkin lymphoma, and one with medulloblastoma; there is also a child with a rhabdomyosarcoma. It is uncertain whether there is a relation between these tumours and PTHS as this can well be explained by coincidence. Data on cardiovascular functioning, osteoporosis, and dementia in adults with PTHS are not available.