J Korean Med Sci.  2013 Nov;28(11):1650-1656. 10.3346/jkms.2013.28.11.1650.

Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

• Koh JW
• Kim GH
• Yoo HW
• Yu J

• KMID: 1777664
• DOI: http://doi.org/10.3346/jkms.2013.28.11.1650

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.

Keyword

Adrenal Insufficiency, Congenital; Adrenal Hyperplasia; Lipoid Congenital Adrenal Hyperplasia; X-Linked Adrenal Hypoplasia Congenita; Growth; Puberty

MeSH Terms

17-alpha-Hydroxyprogesterone/blood
46, XY Disorders of Sex Development/drug therapy/*genetics
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
Female
Genetic Diseases, X-Linked/drug therapy/*genetics
Genotype
Glucocorticoids/therapeutic use
Humans
Intellectual Disability/complications
Male
Mineralocorticoids/therapeutic use
Obesity/complications
Phosphoproteins/genetics
Puberty, Precocious/complications
Retrospective Studies
Steroid 21-Hydroxylase/genetics
17-alpha-Hydroxyprogesterone
Adrenocorticotropic Hormone
Adrenal Insufficiency, Congenital
DAX-1 Orphan Nuclear Receptor
Glucocorticoids
Mineralocorticoids
Phosphoproteins
Steroid 21-Hydroxylase

Figure

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  Fig. 1 Changes of bone age according to chronologic age during follow up. Bone age advancement was observed around 60 months of life except in the CLAH patients.

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  Fig. 2 Results of ACTH stimulation tests. ACTH stimulation tests were performed in 6 patients (CAH, n = 4; AHCX, n = 2). None of the patients reached cortisol value over 18 µg/dL during the test period. The levels of 17-OHP were elevated in all of the CYP21A2 mutation patients but not in the NR0B1 gene mutation group.

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