ABSTRACT
Congenital adrenal insufficiency is caused by specific genetic mutations. Early suspicion and definite diagnosis are crucial because the disease can precipitate a life-threatening hypovolemic shock without prompt treatment. This study was designed to understand the clinical manifestations including growth patterns and to find the usefulness of ACTH stimulation test. Sixteen patients with confirmed genotyping were subdivided into three groups according to the genetic study results: congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH, n=11), congenital lipoid adrenal hyperplasia (n=3) and X-linked adrenal hypoplasia congenita (n=2). Bone age advancement was prominent in patients with CAH especially after 60 months of chronologic age (n=6, 67%). They were diagnosed in older ages in group with bone age advancement (P<0.05). Comorbid conditions such as obesity, mental retardation, and central precocious puberty were also prominent in this group. In conclusion, this study showed the importance of understanding the clinical symptoms as well as genetic analysis for early diagnosis and management of congenital adrenal insufficiency. ACTH stimulation test played an important role to support the diagnosis and serum 17-hydroxyprogesterone levels were significantly elevated in all of the CAH patients. The test will be important for monitoring growth and puberty during follow up of patients with congenital adrenal insufficiency.
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , 17-alpha-Hydroxyprogesterone/blood , Disorder of Sex Development, 46,XY/drug therapy , Adrenal Hyperplasia, Congenital/drug therapy , Adrenal Insufficiency/congenital , Adrenocorticotropic Hormone/metabolism , Bone Development/genetics , DAX-1 Orphan Nuclear Receptor/genetics , Genetic Diseases, X-Linked/drug therapy , Genotype , Glucocorticoids/therapeutic use , Intellectual Disability/complications , Mineralocorticoids/therapeutic use , Obesity/complications , Phosphoproteins/genetics , Puberty, Precocious/complications , Retrospective Studies , Steroid 21-Hydroxylase/geneticsABSTRACT
Objetivo: Verificar se a utilização de corticosteróide no recém-nascido com choque séptico e insuficiência adrenal tem influência na sobrevida dos pacientes. Fontes Pesquisadas: MEDLINE e LILACS no período de 1996 a 2006. Os artigos foram selecionados desde que fornecessem informações sobre a utilização de corticosteróides em recém-nascidos com choque séptico. Síntese dos Dados: A revisão foi dividida em tópicos que abordaram o recém-nascido com choque séptico, a utilização de corticosteróides neste tipo de choque e na insuficiência adrenal associada a este quadro e a relação do tratamento com a evolução dos pacientes. Conclusões: A insuficiência adrenal também ocorre no recém-nascido com choque séptico e os corticosteróides devem ser considerados, mesmo nos pré-termos, não respondentes ao tratamento convencional como expansão de volume e terapia inotrópica.
Objective: To review the use of corticosteroids in the treatment of newborns with septic shock and adrenal failure and the role in survival of the patients. Data Sources: Scientific articles were searched in the data base MEDLINE and LILLACS between 1996 and 2006. The articles were selected whether they provided information about the association of the use of corticosteroids in newborn infants with septic shock. Data Synthesis: This review is structured in topics, in which the septic shock is defined, as well the use of corticosteroids in the adrenal failure and their role in the survival of this patients. Conclusions: There are a very few studies including the use of corticosteroids in critically ill term or premature newborn infants. However, the reposition of adrenal cortex hormones must be considered in the treatment of septic shock with adrenal failure when these patients did not have a good response to the conventional treatment how volume expansion and inotropic therapy.