scholarly journals 220 46,XY disorder of sex development – partial gonadal dysgenesis – case report

Author(s):  
Matea Melša ◽  
Miram Pasini ◽  
Nevena Krnić ◽  
Marija Mikloš ◽  
Kristina Crkvenac Gornik ◽  
...  
2018 ◽  
Vol 89 (2) ◽  
pp. 164-177 ◽  
Author(s):  
Nathalia L. Gomes ◽  
Antônio Marcondes Lerário ◽  
Aline Zamboni Machado ◽  
Daniela Rodrigues de Moraes ◽  
Thatiana Evilen da Silva ◽  
...  

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Rui Lin ◽  
Nanbin Liu ◽  
Xiuyan Wang ◽  
Xuyou Zhu ◽  
Daojing Huang ◽  
...  

Abstract Background 46XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease with atypical chromosomal, gonadal, or anatomical sex development. The patient in this case report had male and female genitalia simultaneously. We created a flowchart of the differential diagnosis for clinicians. Case presentation A 41-year-old male was admitted to the hospital complaining of lower quadrant abdominal pain for 1 day. Physical examination revealed that his penis size was normal, but a urethral orifice was located in the perineum area between the scrotum and anus. One small testicle was in the left scrotum, but no testicle was present on the right. The patient’s abdomen was bulging, and he had lower abdominal pain. According to the emergency CT scan, a lesion (74*65 mm) was found in the right pelvis between the bladder and rectum. The lesion showed an unclear boundary and hematocele appearance. The lesion was removed by emergency surgery, and the pathology report indicated a mixed germ cell tumor with a seminoma and yolk sac tumors. Conclusion This article is a case report of germ cell tumors in 46XY PGD patients. The literature review summarizes the clinical diagnosis, and a flowchart is provided for physicians in future practice. The importance of this report is that it will help acquaint physicians with this rare disease and make the right initial clinical decision quickly through the use of this flowchart. However, the variants of special subtypes of 46XY DSD are myriad, and all the diagnoses could not be covered in one flowchart.


2014 ◽  
Vol 7 (1) ◽  
pp. 58
Author(s):  
SantoshB Kurbet ◽  
N.S. Mahantshetti ◽  
M.V. Patil ◽  
G.P. Prashanth ◽  
R.M. Wali ◽  
...  

2020 ◽  
Vol 16 ◽  
pp. S7
Author(s):  
Harry Achsan Chaerul ◽  
Pradana Nurhadi ◽  
Besut Daryanto

Author(s):  
Juliana Gabriel Ribeiro de Andrade ◽  
Liliana Aparecida Lucci De Angelo Andrade ◽  
Gil Guerra-Junior ◽  
Andréa Trevas Maciel-Guerra

AbstractBackground:The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.Case presentation:Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the “ovarian” part of the right gonad of patient 1 and the left “ovary” of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports.Conclusions:A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue.


2021 ◽  
Vol 5 (2) ◽  
pp. 62-66
Author(s):  
Jeffriey Agung ◽  
Yunias Setiawati

There is an increasing in admitted patients with cases of gender identity disorder in the daycare clinic of the Child and Adolescent Psychiatry Division Dr. Soetomo, it is necessary to increase understanding and clinical ability in relation to gender identity disorders through psychiatry consultation discussion, so that management can be achieved properly and comprehensively. Disorder of sex development (DSD) is a medical disorder that is associated with an incompatibility between chromosomes, gonads, phenotypes and anatomy which is characterized by the development of external genital organs that are incompatible with whether it is male or female. Genetalia ambiguos can cause significant psychological stressors for patients or their families, where as a result of the conditions experienced, it will lead to gender dysphoria with the resulting effects, among others, in the form of anxiety, depression and low self-esteem, to affect the quality of life of children as adolescents and adults. . The method of preparing this report is a case analysis and the role of CLP which is given based on the results of the examination and references to management in the field of psychiatry of children and adolescents in cases of DSD from children aged 12 years. Conducted to strengthen the adaptation of patients to problems identifying gender development and to their families by emphasizing the importance of achieving optimal quality of life for children. The results of the case reports describe the role of Consultation Liason Psychiatry through communication and consultation between related areas of expertise, supportive psychotherapy and continuous Cognitive Behavior Therapy (CBT) techniques along with psychoeducation in families providing good development results with results in reducing patient anxiety and depression, based on children's scoring Depression Inventory (CDI) of patients with Mosaicism, Mixed Gonadal Dysgenesis (MGD). The conclusion of this case report is that the problem of psychological stressors that arise in DSD requires psychiatric assistance according to the stages of child development. The important role of psychiatrists in the management of DSD cases has been recognized and stated in the joint consensus for the treatment of individuals with DSD since 2006. CLP needs to be built because of the complexity of treatment and therapy in DSD cases, which involve subspecialty pediatric endocrinology, urology, psychiatry, gynecology, genetics, workers. social nurse and medical ethics. described in the algorithm below in the management of cases of gender dysphoric. Keywords: disorder of sex development; mixed gonadal dysgenesis; consulation liason psychiatry disorder of sex development; mixed gonadal dysgenesis; consulation liason psychiatry


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