RESUMO
Idiopathic hypoparathyroidism is activating mutation of the calcium sensor receptor lead to inhibition of parathyroid hormone (PTH) secertion at inappropriately low serum ionized calcium levels and are a cause of autosomal dominant hypoparathyroidism. This disease often show slight mental retardation and associated endocrine abnormalities, most commonly hypothyroidism (without goiter) and hypogonadism. We diagnosed this in 20 year old male who presented with left foot pain with rigidity during he was treated for idiopathic epilepsy and had goiter. We report this case with a review of the literature.
Assuntos
Humanos , Masculino , Adulto Jovem , Cálcio , Epilepsia , Pé , Bócio , Hipogonadismo , Hipoparatireoidismo , Hipotireoidismo , Deficiência Intelectual , Hormônio Paratireóideo , TetaniaRESUMO
Idiopathic hypoparathyroidism is activating mutation of the calcium sensor receptor lead to inhibition of parathyroid hormone (PTH) secertion at inappropriately low serum ionized calcium levels and are a cause of autosomal dominant hypoparathyroidism. This disease often show slight mental retardation and associated endocrine abnormalities, most commonly hypothyroidism (without goiter) and hypogonadism. We diagnosed this in 20 year old male who presented with left foot pain with rigidity during he was treated for idiopathic epilepsy and had goiter. We report this case with a review of the literature.
Assuntos
Humanos , Masculino , Adulto Jovem , Cálcio , Epilepsia , Pé , Bócio , Hipogonadismo , Hipoparatireoidismo , Hipotireoidismo , Deficiência Intelectual , Hormônio Paratireóideo , TetaniaRESUMO
Kartagener's syndrome is an inherited condition characterized by triad of chronic paranasal sinusitis, situs inversus, and bronchiectasis. Since 1976, Afzelius found a lack of dynein arm in immotile spermatozoa by electron microscopy, numerous recent studies have focused on the ultrastructural defect in the cilia and reported that the variety type of ultrastructural defect in immotile cilia syndrome. We report a female patient who had the Kartagener's triad with rare multiple ultrastructural defect of cilia in one patient. The electron microscopic examination showed partial dynein arm defect, loss of radial spoke, microtubular transposition, and giant cilia.