Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism

Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. PHP type Ia is due to diminished G(s)alpha activity in several tissues, causing resistance to hormones whose action is mediated by cAMP. Only two cases of males with PTH type Ia who paradoxically showed sexual precocity have been described in the literature. We describe an 11.5 year-old boy affected by PHP without AHO but with associated true precocious puberty, who came to the I.C.U. for tetanic seizures and drowsiness due to severe hypocalcemia. Hyperphosphatemia, increased PTH levels and normal 25-OH-vitamin D values were present. Skeletal X-ray showed mild osteopenia. Brain MRI revealed symmetric calcifications in basal ganglia and in frontal areas. Thyroid and thyreotropinic function were normal. Testosterone levels were in the adult range, as well as basal and stimulated gonadotropin levels. Tanner stage P4, G4; testicular volume 12-15 mi. Molecular cytogenetics studies are now underway to further elucidate the etiology of this form of PHP.