Dataset Information

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

ABSTRACT: 17-?-hydroxysteroid dehydrogenase type 3 (17?-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17?-HSD3 deficiency who presented with female external genitalia and bilaterally palpable gonads in the inguinal region. The low T/?4 ratio after human chorionic gonadotropin (hCG) stimulation suggested 17?-HSD3 deficiency. A homozygous mutation, c.761_762delAG, was determined at the intron 9/exon 10 splice site of the HSD17B3 gene. To the best of our knowledge, this mutation has not been reported thus far, but its localization and type would imply a complete disruption of the 17?-HSD3 which may explain the phenotype of our patient.

SUBMITTER: Alikasifoglu A

PROVIDER: S-EPMC4677563 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

Alikaşifoğlu Ayfer A Vurallı Doğuş D Hiort Olaf O Gönç Nazlı N Özön Alev A Kandemir Nurgün N

Journal of clinical research in pediatric endocrinology 20150901 3

17-β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an important enzyme involved in the final steps of androgen synthesis and is required for the development of normal male external genitalia. 46,XY individuals with deficiency of this enzyme present a wide clinical spectrum from a female appearance of the external genitalia through ambiguous genitalia to a predominantly male genitalia with micropenis or hypospadias. This paper reports a one-year-old 46,XY patient with 17β-HSD3 deficiency who ...[more]

PMID: 26831562

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Project description:Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are caused by mutations in specific genes, which are expressed in the affected organs and regulate their development, and over fourteen genes have been identified. In this study, we aimed to determine the underlying cause of a patient with syndromic 46, XY DSD and review the clinical presentations and genetic findings of all reported similar cases. Methods: Whole-exome sequencing (WES) was performed to find a molecular cause of the patient. In silico tools were used to analyze the pathogenicity of the variants. Reports of cases with similar clinical features and involved genes were summarized by searching through PubMed/MEDLINE using keywords "PPP2R3C" or "G5PR" and "46,XY disorders of sex development". Results: Compound heterozygous variants (p.F229del/p.G417E) in PPP2R3C were identified in the 24-year-old female by WES and verified by Sanger sequencing. The patient presents complete testicular dysgenesis, low birth weight, facial deformity, cubitus valgus, and decreasing number of CD19+ B lymphocytes and CD4+ T lymphocytes. A total of thirteen 46, XY DSD cases with four homozygous PPP2R3C mutations (p.Leu103Pro, p.Leu193Ser, p.Phe350Ser, and p.Ser216_Tyr218dup) have been reported previously, and their clinical manifestations are roughly similar to those of our patient. Conclusion: Novel compound heterozygous variants in PPP2R3C cause specific syndromic 46, XY gonadal dysgenesis, which broadened the pathogenic variants spectrum of PPP2R3C. The typical phenotype of PPP2R3C mutation is complete 46, XY gonadal dysgenesis with multiple extragonadal anomalies, including facial deformities, skeletal system abnormalities, muscle abnormalities, impaired nervous system, impaired hearing and vision, heart and kidney anomalies, and gastrointestinal dysfunction.

Dataset Information

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

Publications

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.

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