Multigeneration Inheritance through Fertile XX Carriers of an NR0B1 (DAX1) Locus Duplication in a Kindred of Females with Isolated XY Gonadal Dysgenesis [PDF]
International Journal of Endocrinology, 2012 A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed.
Michela Barbaro +3 more
doaj +6 more sources
FENOTIP PADA KELAINAN GONADAL DISGENESIS 46, XY [PDF]
Jurnal Kedokteran Diponegoro, 2016 Latar belakang: Fenotip pada pasien Gonadal Dysgenesis 46, XY bervariasi dari wanita normal sampai ambigus genitalia hingga pria dengan undervirilisasi.
Prima Chaerunisa Ananda +2 more
doaj +2 more sources
Familial XY gonadal dysgenesis. [PDF]
Journal of Medical Genetics, 1970 Gonadal dysgenesis is a condition characterized by streak gonads in subjects who present the phenotypic appearance of females. In pure gonadal dysgenesis, unlike Turner's syndrome, no associated somatic anomalies are found; the adult is of normal or above average stature and may have eunuchoidal proportions (Sohval, 1965).
Juan Chemke +4 more
openalex +5 more sources
Swyer syndrome: The gender swayer? [PDF]
Alexandria Journal of Medicine, 2017 46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare +3 more
doaj +4 more sources
Germ Cell Tumors in 46, XY Gonadal Dysgenesis [PDF]
Indian Journal of Endocrinology and MetabolismIntroduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar +5 more
doaj +2 more sources
Dysgerminoma in three patients with Swyer syndrome [PDF]
World Journal of Surgical Oncology, 2007 Background Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis.
Karimi Zarchi Mojgan, Behtash Nadereh
doaj +4 more sources
45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review [PDF]
Frontiers in PediatricsMixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone.
Qiang Zhang +8 more
doaj +2 more sources
Single-Center Experience in Patients with Mixed Gonadal Dysgenesis [PDF]
Turkish Archives of PediatricsObjective: Mixed gonadal dysgenesis (MGD) is an uncommon chromosomal Disorder of Sexual Development (DSD). There is insufficient information regarding clinical findings and growth patterns. This study aimed to provide more information about mixed gonadal
Ebru Barsal Çetiner +7 more
doaj +2 more sources
Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature [PDF]
Acta Medica Lituanica, 2022 Background: Mixed gonadal dysgenesis is a rare congenital and challenging condition, characterized mainly by 45,X/46,XY karyotype mosaicism, asymmetrical gonadal development and various internal and external genital anatomy. Because of frequent disorder
Ignas Trainavičius +4 more
doaj +2 more sources
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation. [PDF]
PLoS ONE, 2012 Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Remko Hersmus +14 more
doaj +4 more sources