J Korean Med Sci.  2012 Nov;27(11):1439-1443. 10.3346/jkms.2012.27.11.1439.

A Case of Congenital Adrenal Hyperplasia Mimicking Cushing's Syndrome

• Kim HJ
• Kang M
• Kim JH
• Kim SW
• Chung JH
• Min YK
• Lee MK
• Kim KW
• Lee MS

• KMID: 2157961
• DOI: http://doi.org/10.3346/jkms.2012.27.11.1439

Abstract

Congenital adrenal hyperplasia (CAH) is characterized by decreased adrenal hormone production due to enzymatic defects and subsequent rise of adrenocorticotrophic hormone that stimulates the adrenal cortex to become hyperplastic, and sometimes tumorous. As the pathophysiology is basically a defect in the biosynthesis of cortisol, one may not consider CAH in patients with hypercortisolism. We report a case of a 41-yr-old man with a 4 cm-sized left adrenal tumorous lesion mimicking Cushing's syndrome who was diagnosed with CAH. He had central obesity and acanthosis nigricans involving the axillae together with elevated 24-hr urine cortisol level, supporting the diagnosis of Cushing's syndrome. However, the 24-hr urine cortisol was suppressed by 95% with the low dose dexamethasone suppression test. CAH was suspected based on the history of precocious puberty, short stature and a profound suppression of cortisol production by dexamethasone. CAH was confirmed by a remarkably increased level of serum 17-hydroxyprogesterone level. Gene mutation analysis revealed a compound heterozygote mutation of CYP21A2 (I173N and R357W).

Keyword

Congenital Adrenal Hyperplasia; 21-Hydroxylase Deficiency; Hypercortisolism

MeSH Terms

17-alpha-Hydroxyprogesterone/blood
Acanthosis Nigricans/complications
Adrenal Hyperplasia, Congenital/complications/*diagnosis/drug therapy
Adult
Cushing Syndrome/diagnosis
DNA Mutational Analysis
Dexamethasone/therapeutic use
Glucocorticoids/therapeutic use
Heterozygote
Humans
Hydrocortisone/urine
Male
Mutation
Obesity/complications
Steroid 21-Hydroxylase/genetics
Tomography, X-Ray Computed
Glucocorticoids
Dexamethasone
Hydrocortisone
17-alpha-Hydroxyprogesterone
Steroid 21-Hydroxylase

Figure

• 

  Fig. 1 General appearance of the patient. (A) In the face, features suggesting moon face was not observed. (B) In the axillae, acanthosis nigricans was seen. (C) In the posterior neck, buffalo hump-like elevation was found. (D) On his lower trunk, central obesity was noted. Erythematous, scaly, guttate papules were also seen.

• 

  Fig. 2 Adrenal CT images. (A & B) Bilateral adrenal hyperplasia (A) and tumorous growth in the left adrenal gland (B) were seen before treatment. (C & D) After 6 months of treatment with dexamethasone (0.25 mg per day), size of adrenal hyperplasia and tumorous lesion in left adrenal gland was markedly reduced (arrows, adrenal hyperplasia; arrow heads, tumorous growth in left adrenal gland).

• 

  Fig. 3 Gene analysis for 21-hydroxylase gene. Nucleotide sequence analysis of the CYP21 gene revealed that the patient was a compound heterozygote of 2 known mutations: I173N in exon 4 (A) and R357W in exon 8 (B).

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