17 β-Hydroxysteroid Dehydrogenase Deficiency in an Infant: Clinical, Hormonal, Genetic Features and Management
Abstract
17 β-hydroxysteroid dehydrogenase deficiency (17β-HSD3 deficiency) is a rare congenital disorder affecting male sexual differentiation. It results from mutations in the HSD17B3 gene, leading to impaired conversion of androstenedione to testosterone. This enzyme deficiency causes ambiguous genitalia at birth, with variable clinical presentations ranging from mild to severe forms. The condition follows an autosomal recessive inheritance pattern. A 3-day-old neonate with ambiguous genitalia and a family history of sexual development disorders was diagnosed with 17β-HSD3 deficiency. Diagnostic tests revealed low testosterone, elevated androstenedione, and increased dihydrotestosterone levels. Genetic testing confirmed mutations in the HSD17B3 gene, supporting the diagnosis. Pelvic ultrasound identified testicular tissue in the inguinal canal, and the absence of Müllerian structures confirmed the male phenotype. Testosterone replacement therapy was initiated, and surgical intervention for hypospadias repair and orchiopexy was planned. Early diagnosis and treatment are essential for optimal sexual differentiation and psychosocial development.
Keywords
17β-HSD3 deficiency, Sexual differentiation, Testosteronereplacement therapy
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