New variant in DHX37 associated to 46,XY gonadal dysgenesis

被引:0
|
作者
Dominguez-Riscart, Jesus [1 ]
Garcia-Zarzuela, Ana [1 ]
Arellano-Ruiz, Paola [2 ]
Benito-Sanz, Sara [3 ]
Delgado-Cotan, Lourdes [4 ]
Maria Lechuga-Sancho, Alfonso [5 ]
机构
[1] Hosp Univ Puerta del Mar, Pediat Endocrinol Unit, Pediat Dept, Cadiz, Spain
[2] Hosp Univ Puerta del Mar, Clin Genet Unit, Cadiz, Spain
[3] CIBERER, INGEMM, Head Disorder Sex Dev Res & Diagnost Lab, Hosp Univ La Paz, Madrid, Spain
[4] Hosp Univ Puerta del Mar, Pediat Surg Dept, Cadiz, Spain
[5] Hosp Univ Puerta del Mar, Pediat Endocrinol Unit, Pediat Dept, Cadiz, Spain
来源
HORMONE RESEARCH IN PAEDIATRICS | 2023年 / 96卷
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P2-44
引用
收藏
页码:558 / 558
页数:1
相关论文
共 50 条
  • [41] THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46, XY
    Latyshev, O. Yu.
    Samsonova, L. N.
    Kasatkina, E. P.
    Okminyan, G. F.
    Kiselyova, Ye. V.
    Timofeyeva, Ye. S.
    BYULLETEN SIBIRSKOY MEDITSINY, 2015, 14 (05): : 41 - 46
  • [42] Peripheral precocious puberty: 46, XY complete gonadal dysgenesis
    Santalha, M.
    Amaral, B.
    Pereira, J.
    Ribeiro, L.
    Joao Oliveira, M.
    Figueiredo, S.
    Cardoso, H.
    Peixoto, C.
    Borges, T.
    Cidade-Rodrigues, J. A.
    ANALES DE PEDIATRIA, 2014, 81 (04): : 246 - 250
  • [43] Endometrial cancer in a woman with 46,XY pure gonadal dysgenesis
    McGregor, D.
    Saridogan, E.
    Benjamin, E.
    Swamy, A.
    Conway, G. S.
    Olaitan, A.
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2015, 35 (04) : 422 - U141
  • [44] Successful twin pregnancy in a 46,XY pure gonadal dysgenesis
    de Santis, M.
    Spagnuolo, T.
    Barone, D.
    Licameli, A.
    JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2013, 33 (07) : 737 - 739
  • [45] Management of males with 45,X/46,XY gonadal dysgenesis
    Müller, J
    Ritzén, EM
    Ivarsson, SA
    Rajpert-De Meyts, E
    Norjavaara, E
    Skakkebæk, NE
    HORMONE RESEARCH, 1999, 52 (01) : 11 - 14
  • [46] Gonadal dysgenesis, 46 XY about 5 familial cases
    Safi, Wajdi
    Kacem, Faten Hadj
    Ben Mrad, Fatma
    Gargouri, Imene
    Belabed, Wafa
    Rekik, Nabila
    Charfi, Nadia
    Ben Rhouma, Bochra
    Feki, Mouna Mnif
    Belghith, Neila
    Abid, Mohamed
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 598 - 598
  • [47] GENETIC FORMS OF GONADAL-DYSGENESIS IN 46,XX AND 46,XY INDIVIDUALS
    SIMPSON, JL
    SEMINARS IN REPRODUCTIVE ENDOCRINOLOGY, 1983, 1 (02): : 93 - 100
  • [48] Novel Variant of the Desert Hedgehog Gene in an Indian Patient of 46, XY Gonadal Dysgenesis with Peripheral Neuropathy
    Srivastava, Kosha
    Baskar, Dipti
    Vengalil, Seena
    Nashi, Saraswati
    Menon, Deepak
    Ganji, Suma R.
    Sanka, Sai B.
    Polavarapu, Kiran
    Rao, Bhoomika M.
    Arunachal, Gautham
    Nalini, Atchayaram
    NEUROLOGY INDIA, 2025, 73 (02) : 352 - 355
  • [49] Pure 46, XY gonadal dysgenesis and 46, XY complete androgen insensitivity syndrome: A case report
    Yu, Tengge
    Liu, Li
    MEDICINE, 2024, 103 (25)
  • [50] Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum
    da Silva, Thatiana Evilen
    Gomes, Nathalia Lisboa
    Lerario, Antonio Marcondes
    Keegan, Catherine Elizabeth
    Nishi, Mirian Yumi
    Carvalho, Filomena Marino
    Vilain, Eric
    Barseghyan, Hayk
    Martinez-Aguayo, Alejandro
    Forclaz, Maria Veronica
    Papazian, Regina
    Pedroso de Paula, Leila Cristina
    Costa, Eduardo Correa
    Carvalho, Luciani Renata
    Lima Jorge, Alexander Augusto
    Elias, Felipe Martins
    Mitchell, Rod
    Frade Costa, Elaine Maria
    Mendonca, Berenice Bilharinho
    Domenice, Sorahia
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2019, 104 (12): : 5923 - 5934