Molecular analysis of 5α-reductase type 2 gene in eight unrelated egyptian children with suspected 5α-reductase deficiency: prevalence of the G34R mutation

Abstract. An 18 year-old 46,XY female-reared patient with incomplete male pseudohermaphroditism type 2 (5α-reductase deficiency) was studied. She had a male habitus, Wolffian ducts derivatives, normal testes and small phallus; there were no Mullerian duct derivatives nor gynaecomastia. Clinical and genetic data were typical of the diagnosis which was corroborated by endocrinological studies. Normal LH, FSH, testosterone (T) and oestradiol and decreased dihydrotestosterone (DHT) plasma levels before and after hCG administration were found; the T:DHT ratio was highly increased. The histopathological studies of a testis biopsy showed a normal adult male pattern, and the meiotic chromosomes were interpreted as normal. After assessment of her psychosexual orientation, successful surgical and medical therapy to maintain and improve her femaleness was effectuated. The post-pubertal gender role switch commonly observed in these female-reared patients is discussed.

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Molecular Characterization of 5α-Reductase Type 2 Deficiency and Fertility in a Swedish Family1

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jcem.83.9.5125 ◽

1998 ◽

Vol 83 (9) ◽

pp. 3236-3238 ◽

Cited By ~ 3

Author(s):

Agneta Nordenskjöld ◽

Sten-Anders Ivarsson

Keyword(s):

Molecular Characterization ◽

Molecular Analysis ◽

External Genitalia ◽

Hypospadias Repair ◽

Swedish Family ◽

Exon 4 ◽

Compound Heterozygotes ◽

5Α Reductase Deficiency

The molecular background of 5α-reductase type 2 deficiency was investigated in a Swedish family with no known consanguinity and in which the affected males were fertile. The three male siblings were born with ambiguous external genitalia, and the diagnosis of 5α-reductase deficiency was established at the ages of 16, 14, and 10 yr, respectively. All three siblings underwent surgery for hypospadias repair. At least two of the brothers are demonstrably fertile. Molecular analysis showed the three brothers to be compound heterozygotes, carrying two different mutations in exon 4 of the 5α-reductase type 2 gene. The two mutations (G196S and H231R) have been described previously and reported to give rise to partially functioning enzymes, which may explain the milder phenotype and perhaps the fertility in the preset three patients.

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Psychosexual Outcome Among Iranian Individuals With 5α-Reductase Deficiency Type 2 and Its Relationship With Parental Sexism

Journal of Sexual Medicine ◽

10.1016/j.jsxm.2016.09.011 ◽

2016 ◽

Vol 13 (11) ◽

pp. 1629-1641 ◽

Cited By ~ 12

Author(s):

Behzad S. Khorashad ◽

Zahra Aghili ◽

Baudewijntje P.C. Kreukels ◽

Mehran Hiradfar ◽

Ghasem M. Roshan ◽

...

Keyword(s):

Reductase Deficiency ◽

Deficiency Type ◽

5Α Reductase Deficiency

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Molecular Analysis of KCNJ10 on 1q as a Candidate Gene for Type 2 Diabetes in Pima Indians

Diabetes ◽

10.2337/diabetes.51.11.3342 ◽

2002 ◽

Vol 51 (11) ◽

pp. 3342-3346 ◽

Cited By ~ 14

Author(s):

V. S. Farook ◽

R. L. Hanson ◽

J. K. Wolford ◽

C. Bogardus ◽

M. Prochazka

Keyword(s):

Type 2 Diabetes ◽

Candidate Gene ◽

Molecular Analysis ◽

Pima Indians

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Faculty Opinions recommendation of Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.12909960.14201055 ◽

2011 ◽

Author(s):

David E Sandberg

Keyword(s):

International Experience ◽

Molecular Heterogeneity ◽

Reductase Deficiency ◽

5Α Reductase Deficiency

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Seroprevalence of Hepatitis C, Hepatitis B, Cytomegalovirus, and Human Immunodeficiency Viruses in Multitransfused Thalassemic Children in Upper Egypt

Advances in Hematology ◽

10.1155/2016/9032627 ◽

2016 ◽

Vol 2016 ◽

pp. 1-7 ◽

Cited By ~ 9

Author(s):

Ramadan A. Mahmoud ◽

Abdel-Azeem M. El-Mazary ◽

Ashraf Khodeary

Keyword(s):

Hepatitis C ◽

Blood Transfusion ◽

Hepatitis B ◽

Thalassemia Major ◽

Upper Egypt ◽

Egyptian Children ◽

Hiv Type 1 ◽

Anti Hiv

Background. Frequent blood transfusions in thalassemia major children expose them to the risk of transfusion-transmitted infections (TTIs). The aim of this study was to estimate the prevalence of hepatitis C virus (HCV), hepatitis B virus (HBV), human immunodeficiency virus (HIV), and cytomegalovirus (CMV) in thalassemic children attending the Pediatrics Departments of both Sohag and Minia Universities of Upper Egypt, during the period from May 2014 to May 2015.Methods. Serum samples were screened for hepatitis B surface antigen (HBsAg), anti-HCV, anti-CMV, and anti-HIV type 1 and type 2 using the Vitek Immunodiagnostic Assay System.Results. The frequencies of anti-HCV, HBsAg, anti-CMV, and anti-HIV type 1 and type 2 were found to be 37.11%, 4.12%, 4.12%, 0.00%, and 0.00%, respectively. Seropositivity for anti-HCV, HBsAg, and anti-CMV increased with increasing age of the patients, duration of the disease, serum ferritin level (ng/mL), and liver enzymes (U/L), while it was not significantly associated with gender, frequency of blood transfusion, or the status of splenectomy operation (P>0.05).Conclusion. The frequency of TTIs, especially HCV, is considerably high among Egyptian children with thalassemia major. It is therefore important to implement measures to improve blood transfusion screening, such as polymerase chain reaction, in order to reduce TTIs from blood donor units.

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The Syndrome of 5α-Reductase Deficiency

The Endocrinologist ◽

10.1097/00019616-199407000-00009 ◽

1994 ◽

Vol 4 (4) ◽

pp. 302-314 ◽

Cited By ~ 18

Author(s):

Carmel M. Fratianni ◽

Julianne Imperato-McGinley

Keyword(s):

Reductase Deficiency ◽

5Α Reductase Deficiency

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