Severe <i>in utero</i> under-virilization in a 46,XY patient with Silver-Russell syndrome with 11p15 loss of methylation

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  • Masanori Adachi
    Department of Endocrinology and Metabolism , Kanagawa Children’s Medical Center , Yokohama , Japan
  • Maki Fukami
    Department of Molecular Endocrinology , National Research Institute for Child Health and Development , Tokyo , Japan
  • Masayo Kagami
    Department of Molecular Endocrinology , National Research Institute for Child Health and Development , Tokyo , Japan
  • Noriko Sho
    Department of Child and Adolescent Psychiatry , Kanagawa Children’s Medical Center , Yokohama , Japan
  • Yuichiro Yamazaki
    Department of Urology , Kanagawa Children’s Medical Center , Yokohama , Japan
  • Yukichi Tanaka
    Division of Diagnostic Pathology , Kanagawa Children’s Medical Center , Yokohama , Japan
  • Yumi Asakura
    Department of Endocrinology and Metabolism , Kanagawa Children’s Medical Center , Yokohama , Japan
  • Junko Hanakawa
    Department of Endocrinology and Metabolism , Kanagawa Children’s Medical Center , Yokohama , Japan
  • Koji Muroya
    Department of Endocrinology and Metabolism , Kanagawa Children’s Medical Center , Yokohama , Japan

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<jats:title>Abstract</jats:title> <jats:sec id="j_jpem-2018-0464_s_999_w2aab2b8c60b1b7b1aab1c17b1Aa"> <jats:title>Background</jats:title> <jats:p>Silver-Russell syndrome (SRS) is characterized by growth retardation and variable features including macrocephaly, body asymmetry, and genital manifestations such as cryptorchidism in 46,XY patients.</jats:p> </jats:sec> <jats:sec id="j_jpem-2018-0464_s_998_w2aab2b8c60b1b7b1aab1c17b2Aa"> <jats:title>Case presentation</jats:title> <jats:p>The patient was born at 39 weeks with a birth weight of 1344 g. Subtle clitoromegaly warranted a thorough evaluation, which disclosed 46,XY karyotype, bilateral undescended testes, and a rudimentary uterus. Because of severe under-virilization, the patient was assigned as female. Failure to thrive, macrocephaly, and body asymmetry led to the diagnosis of SRS, confirmed by marked hypomethylation of <jats:italic>H19/IGF2</jats:italic> intergenic differentially methylated region (IG-DMR). From age 9 years, progressive virilization occurred, which necessitated luteinizing hormone-releasing hormone analog (LHRHa) treatment. Gonadal resection at 15 years revealed immature testes with mostly Sertoli-cell-only tubules. Panel analysis for 46,XY-differences of sex development (DSD) failed to detect any pathogenic variants.</jats:p> </jats:sec> <jats:sec id="j_jpem-2018-0464_s_997_w2aab2b8c60b1b7b1aab1c17b3Aa"> <jats:title>Conclusions</jats:title> <jats:p>This is the second reported case of molecularly proven 46,XY SRS accompanied by severe under-virilization. SRS should be included in the differential diagnosis of 46,XY-DSD.</jats:p> </jats:sec>

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