RESUMO
Familial male-limited precocious puberty (FMPP), also known as testotoxicosis, is a rare cause of precocious puberty in males. It is caused by a mutation in the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) gene, resulting in the receptor being constitutively activated. This causes excessive production of testosterone, leading to precocious puberty in males. Generally, boys present with signs of puberty, such as pubic hair growth, acne, and increased height velocity around the age of 2-4 years old. Like any other cause of precocious puberty, the goal of treatment is to prevent virilization and also delay closure of the epiphyseal plates to maintain adult height potential. Treatment, therefore, is aimed at decreasing the effects of testosterone, as well as stopping the conversion of testosterone to estrogen. Little is known about the long-term effects of treatment because the disorder is so rare. However, studies using bicalutamide and anastrozole have been promising. In this report, we present a boy with FMPP with a novel mutation in the LHCGR gene, who has been responding well to therapy using both drugs.
Assuntos
Puberdade Precoce/genética , Receptores do LH/genética , Humanos , Lactente , Masculino , MutaçãoRESUMO
Severe hypercalcemia in diabetic ketoacidosis (DKA) among children is rare and can be life-threatening. Its exact etiology is not clear and several mechanisms related to dehydration and metabolic acidosis have been proposed. Rigorous hydration with the correct fluid choice usually corrects the hypercalcemia in those without other underlying causes of hypercalcemia such as hyperparathyroidism. Specific medications to treat the hypercalcemia may be avoided. We present a 13-year-old girl with new type 1 onset diabetes mellitus in DKA with unusually severe and persistent hypercalcemia and severe hypernatremia that gradually responded to rigorous intravenous hydration with Plasmalyte A (Baxter International Inc., Deerfield, Illinois).