Expanding the spectrum of syndromic PPP2R3C ‐related XY gonadal dysgenesis to XX gonadal dysgenesis

2021 ◽  
Author(s):  
Umut Altunoglu ◽  
Esra Börklü ◽  
Anju Shukla ◽  
Nathalie Escande‐Beillard ◽  
Susanne Ledig ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis

Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis

Medicine ◽  
1991 ◽  
Vol 70 (6) ◽  
pp. 375-383 ◽  
Author(s):  
Gary D. Berkovitz ◽  
Patricia Y. Fechner ◽  
Howard W. Zacur ◽  
John A. Rock ◽  
Howard M. Snyder ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis

scholarly journals Swyer Syndrome

2020 ◽  
Vol 11 (3) ◽  
pp. 65-68
Author(s):  
G. R. Gazizova ◽  
F. V. Valeeva ◽  
M. R. Shaydullina ◽  
E. I. Akbirova
Keyword(s):  
Gonadal Dysgenesis ◽  
Clinical Observation ◽  
Clinical Symptoms ◽  
Objective Data ◽  
Xy Gonadal Dysgenesis ◽  
Swyer Syndrome ◽  
Swyer’S Syndrome

A clinical observation of a patient with Swyer's syndrome is presented. The article presents anamnesis data, phenotypic signs, clinical symptoms and objective data of the patient, the results of instrumental and hormonal studies, on the basis of which doctors of different specialties may suspect a violation of sex formation with XY gonadal dysgenesis.

The importance of determining karyotype in premenarchal females with gonadal dysgerminoma: two case reports

1991 ◽  
Vol 1 (3) ◽  
pp. 141-143 ◽  
Author(s):  
M. A. Steller ◽  
J. T. Soper ◽  
C. A. Szpak ◽  
J. T. Lanman ◽  
D. L. Clark-Pearson
Keyword(s):  
Germ Cell ◽  
Y Chromosome ◽  
Surgical Management ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Normal Appearance ◽  
Xy Gonadal Dysgenesis ◽  
Nulliparous Women ◽  
Female Genital ◽  
Cell Malignancy

Gonadal dysgerminomas developed in two girls, aged 12 and 15 years. Both were initially treated with conservative unilateral gonadectomy. Forty-six, XY gonadal dysgenesis was not suspected in either patient due to the normal appearance of the contralateral gonads and internal female genital organs. One died of a second germ cell malignancy which developed in the contralateral ovary 9½ years later. The diagnosis of 46, XY gonadal dysgenesis was established by karyotype in both patients. Although conservative surgical management is desirable for nulliparous women with unilateral dysgerminomas, the presence of 46, XY gonadal dysgenesis should be suspected in all premenarchal girls with ovarian germ cell malignancies. If karyotyping reveals the presence of an Y chromosome, bilateral gonadectomy is indicated because of the risk that another neoplasm may develop in the contralateral ovary.

scholarly journals A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

2018 ◽  
Vol 12 (4) ◽  
pp. 191-195 ◽  
Author(s):  
Erkut Ilaslan ◽  
Pierre Calvel ◽  
Dominika Nowak ◽  
Maria Szarras-Czapnik ◽  
Jolanta Slowikowska-Hilczer ◽  
...  
Keyword(s):  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis

scholarly journals 46 XY gonadal dysgenesis in adulthood 'pitfalls of late diagnosis'

2012 ◽  
Vol 2012 (feb07 1) ◽  
pp. bcr1220103626-bcr1220103626 ◽  
Author(s):  
J. N. Hamin ◽  
F. R. P. Arkoncel ◽  
F. L. Lantion-Ang ◽  
M. A. S. Sandoval
Keyword(s):  
Gonadal Dysgenesis ◽  
Late Diagnosis ◽  
Xy Gonadal Dysgenesis
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