46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma
BMJ Case Reports, 2020 Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma and ...
S. Alam +3 more
semanticscholar +1 more source
Caspian Journal of Neurological Sciences, 2021 Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still ...
Shahin Koohmanaee +9 more
doaj +1 more source
Novel associations in disorders of sex development: findings from the I-DSD registry [PDF]
, 2013 Context: The focus of care in disorders of sex development (DSD) is often directed to issues related to sex and gender development. In addition, the molecular etiology remains unclear in the majority of cases.<p></p> Objective: To report ...
Ahmed +58 more
core +6 more sources
THE RISK FOR DEVELOPING TUMOR IN PATIENTS WITH GONADAL DYSGENESIS 46,XY
Бюллетень сибирской медицины, 2015 Disorders of sex development with Y chromosome material has been associated with a high risk for developing germ cell tumors such as gonadoblastoma or dysgerminoma.
O. Yu. Latyshev +5 more
doaj +1 more source
Ovarian Gonadoblastoma with Dysgerminoma in a Young Girl with 46, XX Karyotype: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2013 Gonadoblastoma is a rare gonadal tumour consisting of a mixture of germ cells and sex cord stromal derivatives resembling immature granulosa and Sertoli cells.
Deepa V Kanagal +6 more
doaj +1 more source
Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]
, 2011 Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
core +2 more sources
Achondroplasia Associated with Gonadal Dysgenesis [PDF]
Journal of International Medical Research, 2008 A 45-year-old woman with short stature and primary amenorrhoea was admitted during a health-screening programme. Physical examination revealed a shortness of proximal legs and arms, short stature and other clinical properties of achondroplasia. Secondary sexual characteristics assessment showed axillary hair stage 5, breast stage 4 and pubic hair ...
C, Gokce +6 more
openaire +3 more sources
Frontiers in Pediatrics, 2022 ObjectivesThis retrospective study sought to investigate the risk and proportion of gonadal neoplasms in phenotypic female pediatric patients with DSD and the presence of the Y chromosome and different genetic backgrounds in a single Chinese center ...
Liangsheng Lu, Feihong Luo, Xiang Wang
doaj +1 more source
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]
, 2009 OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Achermann, J.C. +9 more
core +2 more sources
Swyer syndrome (46XY pure gonadal dysgenesis) presenting with dysgerminoma
Archives of Medicine and Health Sciences, 2019 Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis (Swyer syndrome), mixed gonadal dysgenesis, and partial gonadal dysgenesis. Dysgerminoma usually develops in phenotypic
M Banyameen Iqbal +3 more
doaj +1 more source