Endocrinol Metab.  2022 Feb;37(1):124-137. 10.3803/EnM.2021.1278.

Adrenal Morphology as an Indicator of Long-Term Disease Control in Adults with Classic 21-Hydroxylase Deficiency

Affiliations
  • 1Department of Radiology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
  • 2Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea
  • 3Molecular Recognition Research Center, Korea Institute of Science and Technology, Seoul, Korea
  • 4Institute of Radiation Medicine and Kidney Research Institute, Seoul National University Medical Research Center, Seoul, Korea

Abstract

Background
Monitoring adults with classical 21-hydroxylase deficiency (21OHD) is challenging due to variation in clinical and laboratory settings. Moreover, guidelines for adrenal imaging in 21OHD are not yet available. We evaluated the relationship between adrenal morphology and disease control status in classical 21OHD.
Methods
This retrospective, cross-sectional study included 90 adult 21OHD patients and 270 age- and sex-matched healthy controls. We assessed adrenal volume, width, and tumor presence using abdominal computed tomography and evaluated correlations of adrenal volume and width with hormonal status. We investigated the diagnostic performance of adrenal volume and width for identifying well-controlled status in 21OHD patients (17α-hydroxyprogesterone [17-OHP] <10 ng/mL).
Results
The adrenal morphology of 21OHD patients showed hypertrophy (45.6%), normal size (42.2%), and hypotrophy (12.2%). Adrenal tumors were detected in 12 patients (13.3%). The adrenal volume and width of 21OHD patients were significantly larger than those of controls (18.2±12.2 mL vs. 7.1±2.0 mL, 4.7±1.9 mm vs. 3.3±0.5 mm, P<0.001 for both). The 17-OHP and androstenedione levels were highest in patients with adrenal hypertrophy, followed by those with normal adrenal glands and adrenal hypotrophy (P<0.05 for both). Adrenal volume and width correlated positively with adrenocorticotropic hormone, 17-OHP, 11β-hydroxytestosterone, progesterone sulfate, and dehydroepiandrosterone sulfate in both sexes (r=0.33–0.95, P<0.05 for all). For identifying well-controlled patients, the optimal cut-off values of adrenal volume and width were 10.7 mL and 4 mm, respectively (area under the curve, 0.82–0.88; P<0.001 for both).
Conclusion
Adrenal volume and width may be reliable quantitative parameters for monitoring patients with classical 21OHD.

Keyword

Adrenal hyperplasia; congenital; Adrenal cortex; Adrenal volume; Androgens

Figure

  • Fig. 1 Image analysis of patients with 21-hydroxylase deficiency (21OHD). We evaluated the adrenal morphology according to (A, B) limb width, (C) the presence of an adrenal mass (arrows), and (D) adrenal volume by manual segmentation.

  • Fig. 2 Plasma levels of (A) 17α-hydroxyprogesterone (17-OHP) and (B) androstenedione according to the adrenal morphology. Patients with adrenal hypertrophy showed the highest 17-OHP and androstenedione levels, followed by those with normal adrenal glands and adrenal hypotrophy.

  • Fig. 3 Correlations between total adrenal volume and hormonal status and adrenal width and hormonal status. Both total adrenal volume and adrenal width correlated positively with (A, B) adrenocorticotropic hormone (ACTH) and (C, D) 17α-hydroxyprogesterone (17-OHP) levels regardless of sex. (E, F) Androstenedione levels correlated positively with adrenal volume in both male and female patients, and with adrenal width in male patients.

  • Fig. 4 Receiver operating characteristic curves and box-and-whisker diagrams of adrenal volume and width for classifying well-controlled patients (A, B, C) and patients with at least one metabolic morbidity (D, E, F), respectively. AUC, area under the curve; CI, confidence interval.


Cited by  1 articles

Long-Term Outcomes of Congenital Adrenal Hyperplasia
Anna Nordenström, Svetlana Lajic, Henrik Falhammar
Endocrinol Metab. 2022;37(4):587-598.    doi: 10.3803/EnM.2022.1528.


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