Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
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Daniela P. Laureano
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Julio César L. Leite
Abstract
Objectives
Steroid 5α-reductase type 2 deficiency (5α-RD2) is an autosomal recessive disorder caused by mutations in the SRD5A2 gene. This condition is characterized by reduced enzymatic activity of the 5α-reductase type 2 enzyme. Individuals with mutations in the SRD5A2 gene may exhibit various symptoms of under-masculinization in 46, XY individuals. We conducted a comprehensive analysis of the SRD5A2 gene in a patient with disorder of sex development (DSD).
Case presentation
We describe a patient with a homozygous Gly183Ser variant in the SRD5A2 gene. Their sibling also carries this variant in homozygosity, while both parents have it in a heterozygous state. The patient presents with predominantly female traits and was raised as a girl. Although the siblings exhibit distinct phenotypic characteristics, both have assumed a male gender identity.
Conclusions
This study reveals different phenotypes for the two siblings, highlighting the complexity of establishing a genotype-phenotype correlation in the SRD5A2 gene. It is noteworthy that the Gly183Ser variant seems to be more prevalent among individuals of African descent, aligning with our patient’s ethnic background.
Funding source: Fundo de Incentivo à Pesquisa e Eventos (FIPE) do Hospital de Clínicas de Porto Alegre (FIPE-HCPA)
Funding source: Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
Funding source: Pró-Pesquisa/PROPESQ/UFRGS
Acknowledgments
We would like to express our sincere gratitude for the financial support received from the Fundo de Incentivo à Pesquisa e Eventos (FIPE) do Hospital de Clínicas de Porto Alegre (FIPE-HCPA), Pró-Pesquisa/PROPESQ/UFRGS, and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES). This support played a crucial role in the successful completion of our research. Additionally, our heartfelt thanks go to all our colleagues who contributed to this project, demonstrating their commitment and expertise.
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Research ethics: This study received approval from the Ethical Committee of Hospital de Clínicas de Porto Alegre (Approval No. 2019-0362). We affirm that all investigations were conducted in strict adherence to the principles outlined in the Helsinki Declaration.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Use of Large Language Models, AI and Machine Learning Tools: None declared.
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Conflict of interest: Authors state no conflict of interest.
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Research funding: Financial support was provided by the Fundo de Incentivo à Pesquisa e Eventos (FIPE) do Hospital de Clínicas de Porto Alegre (FIPE-HCPA); Pró-Reitoria de Pesquisa/PROPESQ/UFRGS and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).
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Data availability: We declare the data availability for potential conferences.
References
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Articles in the same Issue
- Frontmatter
- Review
- Effect and safety of aromatase inhibitors for the treatment of short stature in male children and adolescents: a meta-analysis of randomized controlled trials
- Original Articles
- Do hybrid closed loop insulin pump systems improve glycemic control and reduce hospitalizations in poorly controlled type 1 diabetes?
- Long-term effectiveness and safety of long-acting growth hormone preparation in children with growth hormone deficiency
- Gonadal changes in children and adolescents with congenital adrenal hyperplasia
- Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p
- Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development
- Experiences and psychological issues affecting parents of children born with atypical genitalia in India
- Case Reports
- A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita
- Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
- Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
- Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency
- A rare case of skeletal dysplasia: biallelic variant in ACAN gene
- Letter to the Editor
- Another look at the necessity of polysomnography for infants with Prader-Willi syndrome prior to initiation of growth hormone therapy
- Annual Reviewer Acknowledgment
- Reviewer Acknowledgment
Articles in the same Issue
- Frontmatter
- Review
- Effect and safety of aromatase inhibitors for the treatment of short stature in male children and adolescents: a meta-analysis of randomized controlled trials
- Original Articles
- Do hybrid closed loop insulin pump systems improve glycemic control and reduce hospitalizations in poorly controlled type 1 diabetes?
- Long-term effectiveness and safety of long-acting growth hormone preparation in children with growth hormone deficiency
- Gonadal changes in children and adolescents with congenital adrenal hyperplasia
- Hsa_circ_0002473 inhibits GH3 cell proliferation and GH secretion as a competitive endogenous RNA for has-miR-4645-3p
- Through the eyes of the parents: a transdiagnostic psychiatric perspective for children with differences of sexual development
- Experiences and psychological issues affecting parents of children born with atypical genitalia in India
- Case Reports
- A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita
- Gly183Ser homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Brazilian patient: case report
- Novel PIK3R1 gene mutation associated with SHORT syndrome: a case report of a 15-year-old female
- Mineralocorticoid receptor antagonist monotherapy in pediatric non-classical 11β-hydroxylase deficiency
- A rare case of skeletal dysplasia: biallelic variant in ACAN gene
- Letter to the Editor
- Another look at the necessity of polysomnography for infants with Prader-Willi syndrome prior to initiation of growth hormone therapy
- Annual Reviewer Acknowledgment
- Reviewer Acknowledgment
