Results 81 to 90 of about 110,162 (292)

Rare successful pregnancy in a patient with Swyer Syndrome

Case Reports in Women's Health, 2016
Objective: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design: Case report. Setting: Herts & Essex Fertility Centre, Cheshunt, UK. Patient(s): A 36-year-old patient with 46, XY gonadal dysgenesis.
Jyoti Taneja, David Ogutu, Michael Ah-Moye   +2 more
doaj  

Clinical follow-up of the first SF-1 insufficient female patient [PDF]

, 2017
Steroidogenic factor 1 (SF-1/NR5A1) plays a crucial role in regulating adrenal development, gonad determination and differentiation, and in the hypothalamic-pituitary control of reproduction and metabolism.
Achermann, Achermann, Anna Biason-Lauber, Baetens, Biason-Lauber, Camats, Ciaccio, Coutant, Eugen J. Schoenle, Fabbri, Ferraz-de-Souza, Guran, Hanley, Harrison, Igarashi, Janse, Jeyasuria, Jiao, Karine Gerster, Köhler, Lala, Lin, Lin, Lin, Lourenco, Luo, Majdic, Morohashi, Parker, Pelusi, Philibert, Philibert, Shinoda, Suwanai, Takayama, Voican, Warman   +36 more
core   +2 more sources

Genetics of 46,XY gonadal dysgenesis.

Best practice & research. Clinical endocrinology & metabolism, 2022
M. Elzaiat, K. McElreavey, A. Bashamboo
semanticscholar   +1 more source

Mixed gonadal dysgenesis with normal karyotype : A rare case report

Indian Journal of Pathology and Microbiology, 2010
Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures.
Anand Ajay, Gupta Narmada, Singh M, Mathur Sandeep, Nayyar Rishi   +4 more
doaj  

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis

Brazilian Journal of Medical and Biological Research, 2005
The WT1 transcription factor regulates SRY expression during the initial steps of the sex determination process in humans, activating a gene cascade leading to testis differentiation.
E.B. Tagliarini, J.G. Assumpção, M.R. Scolfaro, M.P. de Mello, A.T. Maciel-Guerra, G. Guerra Júnior, C. Hackel   +6 more
doaj   +1 more source

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals [PDF]

, 2016
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development ...
Achermann, JC, Correa, RV, da Silva, TE, Domenice, S, Ferraz-de-Souza, B, Ferreira, FM, Frade Costa, EM, Gomes, NL, Lerario, AM, Lin, L, Machado, AZ, Mendonca, BB, Montenegro, LR, Narciso, A, Nishi, MY, Silva, RB   +15 more
core  

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort [PDF]

, 2016
BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic ...
Bergman, P., Bouty, A., Brown, J., Cameron, F., Eggers, S., et al., Grover, S., Heloury, Y., Hewitt, J., Hutson, J., Kimber, C., Knarston, I., Lambeth, L., O'Connell, M., Ohnesorg, T., Robevska, G., Sadedin, S., Tan, T., van den Bergen, J., Werther, G., Zacharin, M.   +20 more
core   +1 more source

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

Journal of Nepal Medical Association, 2019
There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha, Niroj Banepali, Rakesh Sthapit, Dipesh Agrawal   +3 more
doaj   +1 more source

46XX pure gonadal dysgenesis with dysgerminoma along with leydig cells: a unique presentation [PDF]

, 2020
Authors report a unique case of 46XX gonadal dysgenesis, with dysgerminoma in one ovary and other streak ovary with hilar nests of leydig cells. It is exceptionally rare to find dysgerminoma in a dysgenetic gonad with no Y chromosome and so is the ...
Rao, Meenakshi, Singh, Pratibha, Tak, Apoorva, Yadav, Garima   +3 more
core   +2 more sources

Coexistence of Gonadal Dysgenesis and Mullerian Agenesis in a Female with 46 XX Karyotype: A Case Report

Journal of Nepal Medical Association, 2019
Gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism .Mullerian agenesis or Mayer‑Rokitansky‑Kuster‑Hauser syndrome is ...
Santosh Kumar Jha, Rosina Manandhar, Veena Rani Shrivastava   +2 more
doaj   +1 more source