Novel mutation of MAP3K1 gene in 46,XY DSD with complete gonadal dysgenesis |
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| Affiliation: | 1. Department of Obstetrics and Gynecology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan;2. Department of Obstetrics and Gynecology, Kuo General Hospital, Tainan, Taiwan;3. Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan;4. Department of Genomic Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan;5. Department and Graduated Institute of Forensic Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan;6. Department of Obstetrics and Gynecology, College of Medicine, National Cheng Kung University, Tainan, Taiwan |
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| Abstract: | ObjectiveSwyer syndrome, or 46, XY complete gonadal dysgenesis, is a disorder of human sexual development which present with female external genitalia, lack of female reproductive organs, and a 46, XY karyotype. Many genes that participate in human sexual development have been implicated in the pathogenesis of 46, XY gonadal dysgenesis.Case reportA 18-year-old phenotypically female was presented with primary amenorrhea. Surveillance revealed hypergonadotropic hypogonadism, a normal male 46, XY karyotype and absent of functional gonad, which was confirmed by pathological examination of the streak gonad. Whole exome sequencing showed germline mutations of a novel missense variant, c.570G > C, p.Lys190Asn, in exon 2 of MAP3K1 gene.ConclusionGiven evolutionary conservation of lysine residue at position 190, the amino acid substitution may interfere with interaction between MAP3K1 and RHOA, and contributes to complete gonadal dysgenesis in the context of 46,XY. |
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| Keywords: | Gonadal dysgenesis 46,XY MAP3K1 Missense mutation |
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