Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test.

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.

• Authors: Ji Won Koh, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu
• Journal: Journal of Korean medical science (J Korean Med Sci) Vol. 28 Issue 11 Pg. 1650-6 (Nov 2013) ISSN: 1598-6357 [Electronic] Korea (South)
• PMID: 24265530 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DAX-1 Orphan Nuclear Receptor
• Glucocorticoids
• Mineralocorticoids
• NR0B1 protein, human
• Phosphoproteins
• steroidogenic acute regulatory protein
• 17-alpha-Hydroxyprogesterone
• Adrenocorticotropic Hormone
• CYP21A2 protein, human
• Steroid 21-Hydroxylase

Topics

• 17-alpha-Hydroxyprogesterone (blood)
• Adolescent
• Adrenal Hyperplasia, Congenital (drug therapy, genetics)
• Adrenal Insufficiency (congenital, diagnosis, drug therapy, genetics)
• Adrenocorticotropic Hormone (metabolism)
• Bone Development (genetics)
• Child
• Child, Preschool
• DAX-1 Orphan Nuclear Receptor (genetics)
• Disorder of Sex Development, 46,XY (drug therapy, genetics)
• Female
• Genetic Diseases, X-Linked (drug therapy, genetics)
• Genotype
• Glucocorticoids (therapeutic use)
• Humans
• Hypoadrenocorticism, Familial
• Intellectual Disability (complications)
• Male
• Mineralocorticoids (therapeutic use)
• Obesity (complications)
• Phosphoproteins (genetics)
• Puberty, Precocious (complications)
• Retrospective Studies
• Steroid 21-Hydroxylase (genetics)