scholarly journals Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation

2021 ◽  
pp. 1-3
Author(s):  
Samantha Fine ◽  
Kenneth Ford ◽  
Bradley Trotter ◽  
Hoang-Kim Le ◽  
Matthew Crisp ◽  
...  
Keyword(s):  
Sexual Differentiation ◽  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

scholarly journals Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation

Medicina ◽  
2009 ◽  
Vol 45 (5) ◽  
pp. 357
Author(s):  
Gilvydas Verkauskas ◽  
Diana Mačianskytė ◽  
Dainius Jančiauskas ◽  
Romualdas Preikša ◽  
Rasa Verkauskienė ◽  
...  
Keyword(s):  
Sexual Differentiation ◽  
Gonadal Dysgenesis ◽  
Ambiguous Genitalia ◽  
Urogenital Sinus ◽  
Gender Assignment ◽  
Primordial Follicles ◽  
Mixed Gonadal Dysgenesis ◽  
Disorders Of Sexual Differentiation ◽  
Operative Findings ◽  
Gonadal Biopsy

Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis. Material and methods. A retrospective study of five cases treated from 2003 to 2006 was performed. Clinical picture, operative findings, testosterone levels, and immunohistochemistry of gonads for the expression of FOXL2, SOX9, AMH, AMHr, C-kit, and PLAP were analyzed. Results. All patients had ambiguous genitalia, urogenital sinus, uterus, testicle on one side, and a streak gonad on the other. Four patients were reared as male and one as female. Stimulation by human chorionic gonadotropin showed good penile size and testosterone response. All patients underwent laparoscopic gonadal biopsy and/or gonadectomy. Histological studies showed the presence of sparse primordial follicles surrounded by embryonic sex cords in the streak portion of gonads. Germ cells were C-kit positive in all and PLAP positive in four patients. FOXL2 expression was detected in four streak gonads and in none of testes. AMH expression was found only in testes. SOX9 expression was found in both investigated testes and in three out of four streak gonads investigated. Conclusions. 46,XY mixed gonadal dysgenesis should be differentiated from ovotesticular and other types of 46,XY disorders of sexual differentiation by the typical gonadal histology and internal genital structure. High testosterone level after stimulation and good response to testosterone treatment in 46,XY mixed gonadal dysgenesis could orient toward male sex assignment. There are different patterns of gene expression in testicular and streak gonads with a switch to FOXL2 positivity in streak gonads. Early gonadal and genital surgery is recommended.

MIXED GONADAL DYSGENESIS — MALE HERMAPHRODITISM WITH 46, XY/45, XO/46, X DIC Y MOSAICISM

1974 ◽  
Vol 77 (1_Suppl) ◽  
pp. S47
Author(s):  
H. Cramer ◽  
R. Buchholz ◽  
E. Daume ◽  
H. Kalbfleisch ◽  
G. Sturm
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

Mixed gonadal dysgenesis, pathogensis, and management

1979 ◽  
Vol 14 (3) ◽  
pp. 287-300 ◽  
Author(s):  
Patricia K. Donahoe ◽  
John D. Crawford ◽  
W. Hardy Hendren
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

scholarly journals A rare case report of 46XY mixed gonadal dysgenesis

2013 ◽  
Vol 17 (7) ◽  
pp. 268 ◽  
Author(s):  
Sujoy Ghosh ◽  
Satinath Mukhopadhyay ◽  
Subhankar Chowdhury ◽  
Rakesh Arora ◽  
Saumik Datta ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Mixed Gonadal Dysgenesis ◽  
Rare Case Report

Mixed Gonadal Dysgenesis

1974 ◽  
Vol 13 (9) ◽  
pp. 731-733
Author(s):  
N. Gadoth ◽  
S.W. Moses
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

Imaging Findings of Septooptic Dysplasia and Joubert's Syndrome in A Patient with Mixed Gonadal Dysgenesis: A New Coexistence?

2020 ◽  
Author(s):  
Merter Keçeli
Keyword(s):  
Gonadal Dysgenesis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Ambiguous Genitalia ◽  
Total Testosterone ◽  
Resonance Imaging ◽  
Disorders Of Sexual Development ◽  
Laboratory Findings ◽  
Mixed Gonadal Dysgenesis ◽  
Motor Retardation

AbstractAmbiguous genitalia is a common feature in most disorders of sexual development. These disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders, and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous genitalia had developmental and motor retardation with nystagmus. In karyotype analysis, 45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory findings were normal except for low serum total testosterone level. The uterus and left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial magnetic resonance imaging. This presentation reports rare association of SOD and JS in a child with mixed GD.

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