A new deletion of the 5α-reductase type 2 gene in a Turkish family with 5α-reductase deficiency

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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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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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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Spinocerebellar Ataxia Type 2 in a Turkish Family

Journal of Child Neurology ◽

10.1177/0883073807304702 ◽

2007 ◽

Vol 22 (7) ◽

pp. 891-894 ◽

Cited By ~ 4

Author(s):

Eray Dirik ◽

Uluc Yis ◽

Nazli Basak ◽

Esra Soydan ◽

Orkide Hüdaoğlu ◽

...

Keyword(s):

Spinocerebellar Ataxia ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 2 ◽

Turkish Family

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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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Male Pseudohermaphroditism Due to Androgen Insensitivity or 5α-Reductase Deficiency

The Global Library of Women s Medicine ◽

10.3843/glowm.10349 ◽

2009 ◽

Author(s):

Joe Leigh Simpson

Keyword(s):

Male Pseudohermaphroditism ◽

Androgen Insensitivity ◽

Reductase Deficiency ◽

5Α Reductase Deficiency

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Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

BioMed Research International ◽

10.1155/2020/1789514 ◽

2020 ◽

Vol 2020 ◽

pp. 1-7

Author(s):

Bing Han ◽

Tong Cheng ◽

Hui Zhu ◽

Jie Yu ◽

Wen-jiao Zhu ◽

...

Keyword(s):

Chinese Population ◽

Autosomal Recessive Disorder ◽

Ambiguous Genitalia ◽

Chinese Patients ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Reductase Deficiency ◽

Significant Difference ◽

Hotspot Mutations

Background. A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. Methods. We analyzed 25 patients with 5α-reductase deficiency in China. Seventeen of the 25 patients (68%) were initially raised as females. Sixteen patients changed their social gender from female to male after puberty. Results. Eighteen mutations were identified in these patients. p.Gly203Ser and p.Gln6∗ were found to be the most prevalent mutations. On the basis of the genotype of these patients, we divided them into different groups. There was no significant difference in hormone levels and external masculinization score (EMS) in patients with or without these prevalent mutations. Twelve common single-nucleotide polymorphisms (SNPs) near the p.Gln6∗ mutation were chosen for haplotype analysis. Three haplotypes were observed in 6 patients who had the p.Gln6∗ mutation (12 alleles). Conclusion. We analyzed mutations of the SRD5A2 gene in Chinese patients with 5α-reductase deficiency. Although hotspot mutations exist, no founder effect of prevalent mutations in the SRD5A2 gene was detected in the Chinese population.

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