R. Manfredi et al., PSEUDOPSEUDOHYPOPARATHYROIDISM ASSOCIATED WITH IDIOPATHIC GROWTH-HORMONE DEFICIENCY - ROLE OF TREATMENT WITH BIOSYNTHETIC GROWTH-HORMONE, Journal of endocrinological investigation, 16(9), 1993, pp. 709-713
A case is presented of a prepubertal girl with the characteristic soma
tic features of Albright's hereditary osteodystrophy, including severe
short stature, cataracts and shortening of all metacarpals and metata
rsals and of the second middle hand phalanges, whose diagnosis of pseu
dopseudohypoparathyroidism (PPHP) was confirmed by laboratory evaluati
on (normocalcemia, normophosphatemia, normal levels of circulating PTH
and normal response to exogenous PTH). Since an isolated idiopathic G
H deficiency has been diagnosed at the age of 9.7 yr, by an abnormal G
H response to standard provocation tests, a poor spontaneous nocturnal
GH secretion and a blunted response to GHRH test, our patient was tre
ated with biosynthetic GH during a 3.5-year period. Although a good im
provement of growth velocity was obtained when comparing pretreatment
height velocity (4 cm/yr) with growth velocity evaluated during GH tre
atment (6.6, 6.2 and 5.9 cm/yr in the first, the second and the third
year of therapy, respectively), bone age advanced more rapidly than ch
ronological age, so that it is uncertain whether the growth accelerati
on promoted by GH administration really improved final height, which r
emained below the third centile. Our patient is the first described ca
se of PPHP associated with idiopathic GH deficiency, and the second re
port of long-term GH treatment in a subject with PPHP. Further observa
tions are necessary to define the frequency and significance of GH def
iciency and the role of GH replacement therapy in pseudohypoparathyroi
dism- and PPHP-associated short stature.