scholarly journals EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION

2019 ◽  
Vol 5 (6) ◽  
pp. e380-e383
Author(s):  
Meghan E. Fredette ◽  
Katelyn Cusmano ◽  
Chanika Phornphutkul ◽  
Jennifer Schwab ◽  
Anthony Caldamone ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Gonadal Dysgenesis ◽  
Prenatal Testing ◽  
Testicular Development ◽  
Disorders Of Sexual Development ◽  
Current Recommendation ◽  
Fetal Ultrasound ◽  
Dmrt1 Gene ◽  
Chromosome 9P ◽  
Complete Gonadal Dysgenesis

Objective: Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs). Methods: We report the case of a 46,XY infant with phenotypically female external genitalia, müllerian structures including uterus and fallopian tubes, and bilateral streak gonads who was found to have unilateral gonadoblastoma at 13 months. 46,XY DSD was suggested prenatally when discordance between NIPT and fetal ultrasound was noted. Results: Genetic investigation revealed a deletion of 12.5 million base pairs at chromosome 9p24.3, which includes the doublesex and MAB-3-related transcription factor-1 ( DMRT1) gene. Conclusion: Current guidelines recommend gonadectomy at the time of diagnosis in cases of 46,XY CGD, and our patient had gonadoblastoma at 13 months. 46,XY DSD, including rare disorders such as CGD, will be increasingly identified before birth with more widespread use of NIPT, raising the question about the appropriate timing of gonadectomy in prenatal diagnoses. Our case supports the current recommendation to perform gonadectomy as early as possible after diagnosis.

scholarly journals Homozygous DMRT1 mutation c.967G>A found in a Chinese patient with 46,XY complete gonadal dysgenesis and review of literature

2021 ◽  
Author(s):  
Yang Liu ◽  
Zhang Jiaxun ◽  
Zhang Li ◽  
Geng Qian ◽  
Zhiyong Xu ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Chinese Patient ◽  
Chinese Woman ◽  
Homozygous Mutation ◽  
Review Of Literature ◽  
Dmrt1 Gene ◽  
First Case ◽  
Clinicopathologic Findings ◽  
Complete Gonadal Dysgenesis

A Chinese woman with 46,XY CGD was diagnosed by clinicopathologic findings . A homozygous mutation c.967G>A(p. Val323Ile) in the DMRT1 gene was detected in the patient by WES. As far as we know, this is the first case of 46,XY CGD caused by a homozygous mutation in the DMRT1 gene.

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.

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 CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME

2019 ◽  
Vol 6 (4) ◽  
pp. 225-228
Author(s):  
Elena V. Timokhina ◽  
N. V Afanas’yeva ◽  
Yu. A Samoylova ◽  
T. M Silayeva ◽  
V. S Belousova ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gonadal Dysgenesis ◽  
Clinical Case ◽  
Reproductive Technology ◽  
Sry Gene ◽  
Successful Pregnancy ◽  
Pregnancy And Delivery ◽  
Complete Form ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

Swyer syndrome (46,XY complete gonadal dysgenesis) is a rare chromosomal pathology. This pathology occurs with a frequency of 1 in 80,000. In genetic analysis, mutations are most often found in the following genes: the SRY gene, the NR5A1 gene, the SOX9 gene, the MAP3K1 gene. Patients with this disease develop phenotypically as women, but due to the absence of gonads and eggs, independent pregnancy is impossible. This article describes a clinical case of a successful onset, course of pregnancy and delivery in a woman with Swyer syndrome using assisted reproductive technology.

46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

HORMONES ◽  
2019 ◽  
Vol 18 (3) ◽  
pp. 315-320
Author(s):  
Vassos Neocleous ◽  
Pavlos Fanis ◽  
Feride Cinarli ◽  
Vasilis Kokotsis ◽  
Anastasios Oulas ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Familial Case ◽  
Rare Mutation ◽  
Desert Hedgehog ◽  
Complete Gonadal Dysgenesis
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