IllnessAdrenogenital syndrome, differential diagnosis

NGS +

[Sanger]

AGS is mostly caused by a 21-hydroxylase deficiency. The disorder can be divided into the simple virilising, salt-losing or non-classical types. Girls show ambiguous genitals with varying degrees of virilisation at birth. They have a normal uterus, but disorders in vaginal development. The external genitals in boys are normal. AGS types with salt loss lead to symptoms of dehydration and hypotension in the first weeks of life and can be life-threatening. Premature pubarche can be observed in children as well as accelerated growth rate and skeletal maturation (leading to dwarfism in adulthood). Non-classical AGS is often not diagnosed until adolescence, when the first symptoms appear. Manifestations in women include hirsutism, acne, anovulation and menstrual disorders. Men are asymptomatic. In 90-95% of cases, AGS is caused by a mutation in the CYP21A2 gene. The disorder is inherited autosomal recessively.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1171/

• Alias: Adrenal hyperplasia, congenital; Adrenogenital syndrome, AGS
• Alias: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
• Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
• 11-beta-hydroxylase deficiency (CYP11B1)
• 17,20-lyase deficiency, isolated (CYP17A1)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• 21-hydroxylase deficiency (CYP21A2)
• Adrenal hyperplasia, congenital (CYP17A1)
• Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
• Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
• Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
• Hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
• Hyperandrogenism, nonclassic type, 21-hydroxylase deficiency (CYP21A2)
• Lipoid adrenal hyperplasia (STAR)