A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

<div>Clinical presentations of a patient with classic steroid 11β-hydroxylase deficiency. (a) Forehead showing facial acne indicated by a black arrow. (b) Macropenis. Penile is enlarged (8.7 cm in length) with scrotum hyperpigmentation. Testes volume is prepubertal and no pubic hair. (c) Age to penile length graph. The graph shows the penile length and growth (8.7 cm) and penile length is more than 90th percentiles. (d) Left hand X-ray shows advanced bone age between 5 to 6 years of age. (e) Chest X-Ray indicates mild to moderate cardiomegaly.</div>

International Journal of Endocrinology

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Figure 1

Figure 1: A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy

Figure 1 | A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy 