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.

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.

Fragile X and mosaic 45,X/46,XY mixed gonadal dysgenesis in a girl with ambiguous genitalia

2003 ◽  
Vol 124A (2) ◽  
pp. 213-215 ◽  
Author(s):  
I. Marshall ◽  
B.P. Betensky ◽  
Amanda Goseco ◽  
D. Flieder ◽  
M.V. Vogiatzi
Keyword(s):  
Gonadal Dysgenesis ◽  
Fragile X ◽  
Ambiguous Genitalia ◽  
Mixed Gonadal Dysgenesis

scholarly journals A Case of True Hermaphroditism Presenting as a Testicular Tumour

2015 ◽  
Vol 2015 ◽  
pp. 1-3 ◽  
Author(s):  
Michelle Ceci ◽  
Edward Calleja ◽  
Edith Said ◽  
Noel Gatt
Keyword(s):  
Early Childhood ◽  
Case Report ◽  
Sexual Maturation ◽  
Sexual Differentiation ◽  
Ambiguous Genitalia ◽  
Normal Male ◽  
Left Testis ◽  
True Hermaphroditism ◽  
Male Phenotype ◽  
Disorders Of Sexual Differentiation

True hermaphroditism represents only 5% cases of all of disorders of sexual differentiation (DSD) and usually present in early childhood with ambiguous genitalia. Occasionally, cases might present later on in adolescence with problems of sexual maturation. Our case report presents a true hermaphrodite with normal male phenotype that presented as a left testicular mass, two years after being diagnosed with Sertoli cell only syndrome in the contralateral testis. Histological examination of the left testis showed ovarian, fallopian tube, myometrial, endometrial, and epididymal tissue. This combination of findings is found in approximately one-third of true hermaphrodites, but it is very rare to present clinically as an inguinoscrotal mass.

scholarly journals 46,XX Male - Testicular Disorder of Sexual Differentiation (DSD): hormonal, molecular and cytogenetic studies

2010 ◽  
Vol 54 (8) ◽  
pp. 685-689 ◽  
Author(s):  
Cresio Alves ◽  
Zilda Braid ◽  
Fernanda Borchers Coeli ◽  
Maricilda Palandi de Mello
Keyword(s):  
Sexual Differentiation ◽  
Leydig Cells ◽  
Rare Condition ◽  
Ambiguous Genitalia ◽  
Seminiferous Tubules ◽  
Normal Male ◽  
Clinical Presentations ◽  
Cytogenetic Studies ◽  
Gonadal Biopsy ◽  
Xx Male

The XX male syndrome - Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene.

scholarly journals OP27.08: A rare case of 45,X/46,XY mixed gonadal dysgenesis presenting antenatally with ambiguous genitalia

2014 ◽  
Vol 44 (S1) ◽  
pp. 150-150
Author(s):  
M.S. Kutuk ◽  
M. Sahin ◽  
E. Kulengir ◽  
D. Okdemir ◽  
M.T. Ozgun
Keyword(s):  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Ambiguous Genitalia ◽  
Mixed Gonadal Dysgenesis
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