The Dilemma of Management of 5-Alpha Reductase Enzyme Two Deficiency: A Single Clinic Experience
Year: 2024
Type: article
Study design: Observational Study
Abstract: Background: 5-alpha-reductase type 2 enzyme deficiency (5ARD), is a rare autosomal recessive disorder of sex devolvement.The lack of the enzyme that converts testosterone into dihydrotestosterone, results in undervirilization of the external genitalia, ranging from phenotypic female to variable penile hypospadias.Material and Methods: This is a retrospective study which describes a series of twelve patients with 5-α-reductase deficiency.Data extracted from the medical records, included: history, clinical presentation, the appropriate, radiological and hormonal, investigations and management.Results: During the period under review, a total of 69 patients with 46 XY DSD were evaluated.Twelve (20.3%) patients were proved to have 5α reductase deficiency.Their ages ranged from birth to 12 years.All patients presented with atypical appearance of external genitalia, ranging from clitoromegaly, isolated microphallus with penile hypospadias and undescended testes, to a completely normal looking female genitalia.Four (33.3%) patients had severe undervirilization, therefore, assigned female sex at birth.The other eight (66.6%) were given male sex.Unfortunately no genetic studies were done due to unavailability.Conclusion: Disorders in male sexual differentiation result in an incompletely masculinized individual with a 46 XY karyotype and testes.Every effort should be made to accurately diagnose and manage this rare disorder, 5α reductase deficiency and its variable presentation and course.Given the complexity and nature of the disorder, it's extremely important to utilize coordinated multidisciplinary team of specialists.An interdisciplinary support is needed throughout childhood and adolescence.
Authors: ALJurayyan RNA, ALJurayyan ANA, ALJurayyan NAM
Institution: King Saud University
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4404146228