A novel mutation of 5α-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment

Erdeve, Şenay Savaş; Aycan, Zehra; Berberoğlu, Merih; Şıklar, Zeynep; Hacıhamdioğlu, Bülent; Sipahi, Kadir; Akar, Nejat; Öçal, Gönül

doi:10.1007/s00431-010-1163-1

Cited by 9 publications

(2 citation statements)

References 14 publications

(28 reference statements)

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“…SRD5A2 deficiency is often suspected in infants with ambiguous genitalia or when adolescents, who have previously ascribed the female gender, present with marked masculinization and/or phallic growth at puberty (13). The clinical features of this disease are highly variable owing to different mutations within the same gene.…”

Section: Discussionmentioning

confidence: 99%

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

Deeb¹,

Suwaidi²,

Ibukunoluwa³

et al. 2016

Jcrpe

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Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error of metabolism causing a disorder of sexual differentiation. It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported. Affected individuals have a broad spectrum of presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-appearing genitalia. We report an extended Emirati family with 11 affected members. The family displayed various phenotypes on presentation leading to different sex of rearing. Some family members were reassigned gender at various stages of life. The index case was born with severe undervirilization with bilaterally palpable gonads and was raised as male from birth. He had a 46,XY karyotype and a high testosterone/dihydrotestosterone ratio. Genetic investigation revealed a novel homozygous deletion of exon 2 of the SRD5A2 gene. Both parents were found to be carriers for the gene deletion. The patient had masculinizing surgery and a course of topical dihydrotestosterone. No beneficial effect of the hormone application was noted over 3 months and the treatment was discontinued. The findings on this kindred indicate that deletion of exon 2 in the SRD5A2 gene causes various degrees of genital ambiguity leading to different sex of rearing in affected family members. Gender reassignment may be done at various ages even in conservative communities like the Gulf region.

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Section: Discussionmentioning

confidence: 99%

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

Deeb¹,

Suwaidi²,

Ibukunoluwa³

et al. 2016

Jcrpe

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“…There was a first-degree consanguinity between her parents. Genetic analysis revealed a mutation resulting from proline-to-alanine substitutions in exon 1, codon 65 (12). The second patient was seven years old and reared as a girl.…”

Section: Discussionmentioning

confidence: 99%

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

Eren

Edgünlü

Asut³

et al. 2016

Jcrpe

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Objective:Deficiency of steroid 5-alpha reductase type 2 (5αRD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene. A defect in the 5-alpha reductase enzyme, which ensures conversion of testosterone into dihydrotestosterone, leads to disorders of sex development. This study presents the clinical and genetic results of patients with 5αRD2 deficiency.Methods:5αRD2 deficiency was detected in 6 different patients from 3 unrelated families. All patients were reared as girls. Two of the patients presented with primary amenorrhea, one with primary amenorrhea and rejection of female gender, and the others with masses in their inguinal canals. Chromosome and sex-determining region Y (SRY) gene analyses were performed in all patients. Additionally, five exons of the SRD5A2 gene were amplified with polymerase chain reaction in the obtained DNA samples and evaluated.Results:While 46,XY was identified in 5 patients, 47,XXY was detected in one patient. The SRY gene was positive in all patients. The p.Ala65Pro (c193G>C) mutation and V89L polymorphism were observed in exon 1 of the SRD5A2 gene in all patients.Conclusion:Identification of this mutation and polymorphism is a significant indicator of presence of 5αRD2 deficiency in Southeastern Turkey, a geographical region where consanguineous marriages are also highly common.

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Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey

Abacı

Çatlı

Kırbıyık

et al. 2018

J Endocrinol Invest

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A novel mutation of 5α-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment

Cited by 9 publications

References 14 publications

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene

Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency

Genotype–phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey

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