Ann Pediatr Endocrinol Metab.  2024 Jun;29(3):204-206. 10.6065/apem.2448176.088.

A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita

• Heo S
• Shim YS
• Lee HS
• Hwang JS

• KMID: 2556678
• DOI: http://doi.org/10.6065/apem.2448176.088

Figure

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  Fig. 1. Serum cortisol and ACTH levels of the 8-year-old boy diagnosed with X-linked adrenal hypoplasia congenita due to NR0B1 likely pathogenic variant. Before treatment, an elevated ACTH (21,310 pg/mL) and low cortisol (2.0 μg/dL) were noted. After treatment with hydrocortisone, gradually decreased ACTH was noted. ACTH, adrenocorticotropic hormone.

Reference

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