An atypical presentation of 11β-hydroxylase deficiency: a family case report /literature review

Introduction: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders of cortisol biosynthesis. Enzyme deficiencies lead to chronic adrenal overstimulation and accumulation of steroid precursors. The most common form is 21-hydroxylase deficiency, whereas 11β-hydroxylase deficiency is rare, affecting approximately 1 in 100,000 live births. Case report: We report a Moroccan family in which both parents carried the non-classic form of 11β-hydroxylase deficiency. The mother presented with moderate hirsutism, while the father was asymptomatic. The condition was first identified following the birth of their second daughter, who presented with a disorder of sex development (DSD) adreneal insufficiency without hypertension. The genetic study revealed a CYP11β1 mutation resulting in an 11β hydroxylase block in its classic virilising form. Despite genetic counseling, six subsequent pregnancies were pursued with two others affected cases Management: The mother was treated with hydrocortisone and the girls with hydrocortisone, and feminizing surgery Conclusion: There is considerable heterogeneity in the clinical presentation of patients with 11β-hydroxylase deficiency. Early diagnosis and treatment are essential to prevent complications and improve long-term outcomes.