Journal article

Publication year: 2010

Pages: 67-71

Journal: Hormone Research in Paediatrics

Volume number: 74

Issue number: 1

ISSN: 1663-2818

eISSN: 1663-2826

DOI Link: https://doi.org/10.1159/000313372

Publisher: Karger Publishers

Abstract: 
Background/Aims: Steroid 5 alpha-reductase deficiency (MIM*607306) caused by mutations in the SRD5A2 gene is characterized by a predominantly female phenotype at birth and significant virilization at puberty. The undermasculinization at birth results from low dihydrotestosterone (DHT) levels during fetal development as the type 2 isoenzyme activity is reduced. In puberty, when the type 1 isoenzyme activity increases, significant virilization occurs. Most 46,XY individuals with 5 alpha-reductase 2 deficiency develop a male gender identity. Case Report and Results: We present a case with a predominantly female phenotype and ambiguous external genitalia but a normal 46, XY karyotype. Plasma steroid analysis after beta-hCG stimulation at 8 days of age revealed a steroid profile estimated as normal with a testosterone (T)/DHT ratio of 9.5 initially misleading to the exclusion of 5 alpha-reductase deficiency. However, mutation analysis of the SRD5A2 gene revealed a homozygote point mutation (Leu55Gln) confirming the diagnosis of 5 alpha-reductase deficiency. A male phenotype was successfully achieved by hormone treatment with T and DHT after diagnosing 5 alpha-reductase deficiency and a masculinization operation. As a side effect skeletal age accelerated temporarily. Conclusion: In individuals with predominantly female phenotype and suspected 5 alpha-reductase deficiency, a T/DHT ratio during the neonatal period >8.5 might point to 5 alpha-reductase deficiency. After confirmation of the diagnosis by molecular analysis of the SRD5A2 gene, a satisfactory change to a male phenotype can be achieved by hormone treatment preceding surgery. Copyright (C) 2010 S. Karger AG, Basel

Harvard Citation style: Walter, K., Kienzle, F., Frankenschmidt, A., Hiort, O., Wudy, S., van der Werf-Grohmann, N., et al. (2010) Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD, Hormone Research in Paediatrics, 74(1), pp. 67-71. https://doi.org/10.1159/000313372

APA Citation style: Walter, K., Kienzle, F., Frankenschmidt, A., Hiort, O., Wudy, S., van der Werf-Grohmann, N., Superti-Furga, A., & Schwab, K. (2010). Difficulties in Diagnosis and Treatment of 5α-Reductase Type 2 Deficiency in a Newborn with 46,XY DSD. Hormone Research in Paediatrics. 74(1), 67-71. https://doi.org/10.1159/000313372