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.

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.

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 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

Association between Down Syndrome and Disorders of Sex Development: Report of Three Cases and Review of 188 Cases in the Literature

2021 ◽  
pp. 1-9
Author(s):  
Octavio O. Santos-Neto ◽  
Marina H. Mariano ◽  
Antonia P. Marques-de-Faria ◽  
Juliana G. R. Andrade ◽  
Tarsis A. P. Vieira ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Male Genitalia ◽  
Gonadal Dysgenesis ◽  
Sex Chromosome ◽  
Klinefelter Syndrome ◽  
Disorders Of Sex Development ◽  
Androgen Insensitivity ◽  
Mixed Gonadal Dysgenesis ◽  
Sex Development ◽  
Complete Gonadal Dysgenesis

In this study, we present 3 cases of Down syndrome (DS) associated with disorders/differences of sex development (DSD) and review the literature on this topic. Case 1: 1-year-old child with male genitalia and DS phenotype, 47,XX,+21 karyotype and testicular DSD. Case 2: 11-month-old child with male genitalia and few DS dysmorphisms, 45,X/47,XY,+21 karyotype, and mixed gonadal dysgenesis. Case 3: 4-month-old child with female genitalia and DS phenotype, 47,XY,+21 karyotype and XY complete gonadal dysgenesis. In the literature, among 188 patients, 107 (57%) had Klinefelter syndrome and 61 (33%) Turner syndrome, 12 (6%) had mixed gonadal dysgenesis, 2 (1%) had partial androgen insensitivity, 2 (1%) ovotesticular DSD, and the others had congenital adrenal hyperplasia, XY partial gonadal dysgenesis, XY complete gonadal dysgenesis, and complete androgen insensitivity (1 case each). A typical DS phenotype was found in all individuals of the revision, with the exception of one case, but DSD features were not always reported. In conclusion, the association of DS with sex chromosome DSD is the most frequently observed, whereas associations with 46,XX and 46,XY DSD is extremely rare.

scholarly journals Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

2008 ◽  
Vol 93 (1) ◽  
pp. 182-189 ◽  
Author(s):  
Miroslav Dumic ◽  
Karen Lin-Su ◽  
Natasha I. Leibel ◽  
Srecko Ciglar ◽  
Giovanna Vinci ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Ambiguous Genitalia ◽  
Chromosomal Mosaicism ◽  
Normal Male ◽  
Disorders Of Sexual Development ◽  
Cultured Skin ◽  
Family Pedigree ◽  
Mother And Daughter ◽  
Complete Gonadal Dysgenesis

Abstract Context: We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X). Patients: A 46,XY mother who developed as a normal woman underwent spontaneous puberty, reached menarche, menstruated regularly, experienced two unassisted pregnancies, and gave birth to a 46,XY daughter with complete gonadal dysgenesis. Results: Evaluation of the Y chromosome in the daughter and both parents revealed that the daughter inherited her Y chromosome from her father. Molecular analysis of the genes SOX9, SF1, DMRT1, DMRT3, TSPYL, BPESC1, DHH, WNT4, SRY, and DAX1 revealed normal male coding sequences in both the mother and daughter. An extensive family pedigree across four generations revealed multiple other family members with ambiguous genitalia and infertility in both phenotypic males and females, and the mode of inheritance of the phenotype was strongly suggestive of X-linkage. Conclusions: The range of phenotypes observed in this unique family suggests that there may be transmission of a mutation in a novel sex-determining gene or in a gene that predisposes to chromosomal mosaicism.

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
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