4 documents found, page 1 of 1
Homozygosity for a rare GNRHR variant associated with isolated hypogonadotropic...
Pereira-Caetano, Iris; Dias, Teresa; Garcia e Costa, Joaquim; Gonçalves, JoãoCongenital disorders of sex development (DSD) can be explained by exposure to harmful environmental factors during fetal life, or by genetic conditions. Hereditary DSD can be due to genetic defects, hormonal synthesis and action. In 46,XY individuals, alterations affecting the hypothalamic-pituitary-gonadal (HPG) axis disturb testosterone synthesis resulting in DSD ranging from cryptorchidism to female external...
Mutação rara em homozigotia no gene do recetor da hormona libertadora das gonad...
Dias, Teresa; Pereira-Caetano, Iris; Garcia e Costa, Joaquim; Gonçalves, JoãoINTRODUÇÃO: O hipogonadismo hipogonadotrófico isolado congénito (HHI) caracteriza-se pela falência parcial ou completa do desenvolvimento pubertário na maioria dos casos devido à falta de estímulo das gonadotrofinas induzido pela GnRH. Face à presença ou ausência de olfato o HHI divide-se em dois síndromes: HHI com hiposmia/anosmia ou Síndrome de Kallmann (SK) e HHI com olfacto normal (HHIn). HHIn representa ce...
The Hungry Bone Syndrome: a clinical case report
Araújo, Francisco; Garcia e Costa, Joaquim; Ducla Soares, José LuísTransient post thyroidectomy hypocalcaemia is a relatively frequent feature, most of the times related to a surgical lesion of the parathyroid glands. Prior hyperthyroidism is also a risk factor for transient hypocalcaemia. Long term or definitive hypocalcaemia, as found in the clinical case we present, is a much rarer condition, is dependent on hypoparathyroidism or in a few cases with osteodystrophy reversal ...
Goiter and pregnancy.
Garcia e Costa, JoaquimThe author refers to the changes occurred in thyroid dimensions during pregnancy, evaluated clinically and echographically. He also describes the changes in thyroid normal function on pregnant women and the different stages of the fetal thyroid maturation. Some complementary tests must be carried out, when there is a presence of a goitre nodule, which opportunity and relevance the need are discussed. The possib...