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Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test
Journal of Korean Medical Science ; : 1650-1656, 2013.
Article in English | WPRIM | ID: wpr-148462
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)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Phosphoproteins / Puberty, Precocious / Bone Development / Steroid 21-Hydroxylase / Retrospective Studies / Adrenal Insufficiency / Adrenal Hyperplasia, Congenital / Adrenocorticotropic Hormone / 17-alpha-Hydroxyprogesterone / Genetic Diseases, X-Linked Type of study: Observational study / Screening study Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: English Journal: Journal of Korean Medical Science Year: 2013 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Phosphoproteins / Puberty, Precocious / Bone Development / Steroid 21-Hydroxylase / Retrospective Studies / Adrenal Insufficiency / Adrenal Hyperplasia, Congenital / Adrenocorticotropic Hormone / 17-alpha-Hydroxyprogesterone / Genetic Diseases, X-Linked Type of study: Observational study / Screening study Limits: Adolescent / Child / Child, preschool / Female / Humans / Male Language: English Journal: Journal of Korean Medical Science Year: 2013 Type: Article