RESUMO
Despite the essential role of insulin in the management of patients with diabetes mellitus type 1, insulin use can cause a variety of adverse effects, such as hypoglycemia and weight gain. Herein, we describe an adolescent girl with type 1 diabetes mellitus diagnosed one year ago, who presented with edema of the lower extremities approximately two weeks after an increase in the insulin dose; other causes of edema were excluded. Spontaneous recovery was observed in the patient.
Assuntos
Diabetes Mellitus Tipo 1/tratamento farmacológico , Edema/induzido quimicamente , Hipoglicemiantes/efeitos adversos , Insulina/efeitos adversos , Adolescente , Feminino , Humanos , Extremidade Inferior , Remissão EspontâneaRESUMO
Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia.
Assuntos
Inversão Cromossômica/genética , Cromossomos Humanos Par 9/genética , Transtornos do Desenvolvimento Sexual/genética , Humanos , Lactente , Cariotipagem , MasculinoRESUMO
Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. Laboratory studies revealed an elevated level of serum triglyceride. Ultrasonograph demonstrated enhanced size of ovary containing multiple mature follicles. Considering the clinical phenotype, AGPAT2 gene was sequenced which showed homozygote c.514G>A mutation. Therefore, the diagnosis of BSCL was confirmed in this patient.
Assuntos
Aciltransferases/genética , Lipodistrofia Generalizada Congênita/genética , Criança , Feminino , Humanos , Resistência à Insulina/genética , Lipodistrofia Generalizada Congênita/complicações , Lipodistrofia Generalizada Congênita/diagnóstico , Lipodistrofia Generalizada Congênita/metabolismo , MutaçãoRESUMO
Hypothalamic hamartoma (HH) is a rare intracranial lesion that usually presents with classic triad of central precocious puberty, gelastic epilepsy, and developmental delay. Herein, a 14-year old boy is presented in whom the diagnosis of HH was made by magnetic resonance imaging. While he did not have any complain of precocious puberty, he surprisingly suffered from delay in puberty. The definite diagnosis of HH can only be made by appropriate imaging, in a case with atypical feature of delay in puberty and in the absence of gelastic epilepsy. To our best knowledge, this is the first case of HH who is presented with delay in puberty as of first manifestation.