ESPE Abstracts (2016) 86 P-P2-433

46,XY Complete Gonadal Dysgenesis with Late Diagnosis

Vilhelm Mladenova, Silvia Andonovab, Alexey Savovb, Mari Hachmeriyanc, Ralitza Popovad & Violeta Iotovaa


aFirst Pediatric Clinic, UMHAT “Sveta Marina”, Medical University, Varna, Bulgaria; bNational Genetic Laboratory, UHOG “Maichin dom”, Medical University, Sofia, Bulgaria; cClinic of Medical Genetics, UMHAT “Sveta Marina”, Medical University, Varna, Bulgaria; dClinic of Diagnostic Imaging, UMHAT “Sveta Marina”, Medical University, Varna, Bulgaria


Background: 46,XY Complete Gonadal Dysgenesis (Swyer Syndrome) is a rare cause for DSD with incidence ≈1:80000. It is characterised by defective formation of the gonads as a result of structural anomalies in the sex chromosomes or mutations in specific genes. In 20% of the patients deletion/mutation in SRY can be found. Mutations, deletions or duplications in other genes (NRD5A1, DHH, DAX1, WNT4, DMRT, etc.) are also reported. The phenotype is completely female and the diagnosis is usually made at puberty because of primary amenorrhoea. Early diagnosis is important because of increased tumor risk in the dysgenetic gonads.

Objective and hypotheses: To present a case of Swyer Syndrome with late diagnosis.

Method: We present an 18 y 11 m old girl. At the age of 16 she was evaluated by a gynecologist because of primary amenorrhoea and treatment with oral contraceptive pills was started. At the age of 18 because of poor treatment results she was consulted by another gynecologist and a karyotyping was performed. The karyotype was 46,XY with no significant chromosomal rearrangements. The patient was referred to the multidisciplinary DSD team at our institution.

Results: Hormonal investigations revealed hypergonadotropic hypogonadism and low levels of AMH and InhB. On US and MRI hypoplastic uterus was found. The presence of Y-chromosome was confirmed by QF-PCR analysis. No mutations of the coding regions and exon/intron boundaries in SRY and NRD5A1 genes were detected. Next, MLPA tests are planned (for deletion/duplication screening in DMRT1, NR5A1, etc.). Laparoscopy for detection and removal of the dysgenetic gonads is underway. Adequate hormone replacement therapy was initiated.

Conclusion: Management of patients with DSD should be performed in centres with adequate diagnostic and therapeutic potential. Exact genetic diagnosis is not always feasible and new techniques like whole exome sequencing analysis could be considered for clarifying the genetic basis in such cases.

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