Phenotypically male. Physical manifestations of
this syndrome develop at puberty. Typically small, soft testes with
underdeveloped secondary sex characteristics, such as sparse facial and body hair.
Affected men are infertile as a consequence of azoospermia caused by
sclerosed seminiferous tubules. Patients may be tall with long limbs.
Osteoporosis may lead to vertebral collapse and even scoliosis. Unless
treated with exogenous testosterone starting at puberty, patients can become
obese and develop diabetes mellitus. A recent study from Britain showed that these
patients have a reduced life expectancy. The main reasons were peripheral
vascular disease, pulmonary embolism, diabetes mellitus (secondary to insulin
resistance), respiratory disease (restrictive pneumopathy), and nervous system disease
(e.g., subarachnoid hemorrhage, epilepsy). Mortality from ischemic heart disease,
however, was reduced.