Abstract.Acrodysostosis is characterized by distinctive facial features
and severe brachydactyly. Mutations in
PRKAR1A or PDE4D
are known to be responsible for this disease. Cases of
hormonal resistance have been reported, particularly in
patients with PRKAR1A mutations. The
physical characteristics and endocrine function of
pseudohypoparathyroidism type Ia is known to resemble
acrodysostosis. We report the case of a 4-yr-old patient
with a PRKAR1A mutation. He had
characteristic facies with an upturned nose and cone-shaped
epiphyses of most phalanges. These findings have not been
reported as extensive for cases of pseudohypoparathyroidism
type Ia. He also had TSH resistance from birth. We performed
endocrinological stimulation tests to further evaluate his
endocrine status. These examinations revealed resistance to
TSH and PTH, but there was normal secretion of ACTH, GH, and
cortisol. An Ellsworth-Howard test resulted in normal
urinary cAMP excretion. This response differs from that of
pseudohypoparathyroidism type Ia. In summary, the
constellation of an upturned nose, cone-shaped epiphyses of
most if not all phalanges, and PTH resistance with a normal
urinary cAMP response may satisfactorily enable clinical
diagnosis of acrodysostosis.