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5-Alpha-Reductase 2 Deficiency in Newborns:A Review
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Disorders of sex development (DSD) are mostly associated with gender ambiguity at birth and poses a real challenge in diagnosis. 5 alpha reductase 2 deficiency (5AR2D) is one such DSD associated with deficiency of a key male sex hormone called as Dihydrotestosterone (DHT) due to lack of 5 alpha reductase type 2 enzyme which converts testosterone to Dihydrotestosterone. This hormone is very vital for the development of external genitalia during embryogenesis, and the deficiency leads to partial or abnormal male external genitalia in the affected neonate. 5AR2D is due to mutation in steroid-5- alpha-reductase, alpha polypeptide 2 (SRD5A2) genes on chromosome 2, band p23. Clinical presentation of these children vary from normal male genitalia to a completely female genitalia. 5AR2D is associated with deficiency of DHT and normal or increased testosterone levels. Most of the children with 5AR2D are raised as females and gender conversion to male happens at around puberty due to masculine and voice changes caused by testosterone. Early diagnosis is beneficial in treating this problem. Elevated testosterone: DHT ratio with administration of beta human chorionic Gonadotropin (HCG) is the gold standard test in diagnosis of this defect. Most patients of 5 alpha reductase 2 deficiency are considered infertile, but with recent advancements in assisted reproductive techniques a few 5AR2D have been successful in giving birth to their offsprings.
Keywords
Disorders of Sex Development (DSD), 5 Alpha Reductase Deficiency, Di-Hydro-Testosterone (DHT).
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- Fu X, Zhang W, Qu X. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children. Genetics and Molecular Research. 2016; 15(1).
- Odame I, Donaldson M, Wallace A, Cochran W, Smith P. Early diagnosis and management of 5 alpha-reductase deficiency. Archives of Disease in Childhood. 1992;67(6):720-723.
- Markantes G, Deligeoroglou E, Armeni A, Vasileiou V, Damoulari C, Mandrapilia A et al. Callo: The first known case of ambiguous genitalia to be surgically repaired in the history of Medicine, described by Diodorus Siculus. HORMONES. 2015;
- Maleki N, Kalantar Hormozi M, Iranparvar Alamdari M, Tavosi Z. 5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea. Case Reports in Endocrinology. 2013;2013:1-4.
- Al-Attia H. Male pseudohermaphroditism due to 5 alpha-reductase-2 deficiency in an Arab kindred. Postgraduate Medical Journal. 1997;73(866):802-807.
- Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P et al. Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients. The Journal of Clinical Endocrinology & Metabolism. 2011;96(2):296-307.
- Kang H, Imperato-McGinley J, Zhu Y, Rosenwaks Z. The effect of 5α-reductase-2 deficiency on human fertility. Fertility and Sterility. 2014;101(2):310316.
- Sasaki G, Ogata T, Ishii T, Kosaki K, Sato S, Homma K et al. Micropenis and the 5α-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients. The Journal of Clinical Endocrinology & Metabolism. 2003;88(7):3431-3436.
- Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F et al. Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations. International Journal of Andrology. 2010;33(6):841-847.
- Alswailem M, Alzahrani O, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A et al. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. Endocrine. 2018;63(2):361-368.
- Fernández-Cancio M, Audí L, Andaluz P, Torán N, Piró C, Albisu M et al. SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. International Journal of Andrology. 2011;34(6pt2):e526-e535.
- Chan A, But B, Lee C, Lam Y, Ng K, Tung J et al. Diagnosis of 5 -Reductase 2 Deficiency: Is Measurement of Dihydrotestosterone Essential?. Clinical Chemistry. 2013;59(5):798-806.
- Al-Jurayyan N. Ambiguous Genitalia: Two Decades of Experience. Annals of Saudi Medicine. 2011;31(3):284-288.
- Akcay T, Fernandez-Cancio M, Turan S, Güran T, Audi L, Bereket A. ARandSRD5A2gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity. Andrology. 2014;2(4):572-578.
- Thigpen A, Davis D, Milatovich A, Mendonca B, Imperato-McGinley J, Griffin J et al. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. Journal of Clinical Investigation. 1992;90(3):799-809.
- Deeb A, Suwaidi H, Ibukunoluwa F, Attia S. Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene. Journal of Clinical Research in Pediatric Endocrinology. 2016;8(2):236-240.
- Fernández-Cancio M, Nistal M, Gracia R, Molina M, Tovar J, Esteban C et al. Compound Heterozygous Mutations in theSRD5A2Gene Exon 4 in a Male Pseudohermaphrodite Patient of Chinese Origin. Journal of Andrology. 2004;25(3):412-416.
- Ng W, Taylor N, Hughes I, Taylor J, Ransley P, Grant D. 5 alpha-reductase deficiency without hypospadias. Archives of Disease in Childhood. 1990;65(10):1166-1167.
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