PSEUDOPSEUDOHYPOPARATHYROIDISM ASSOCIATED WITH IDIOPATHIC GROWTH-HORMONE DEFICIENCY - ROLE OF TREATMENT WITH BIOSYNTHETIC GROWTH-HORMONE

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.