46, XY complete gonadal dysgenesis (Swyer syndrome): Report of two different cases
| Autor: | Ahmed Samy El-Agwany, Ziad S. Abouzaid, Sally S. El-Tawab |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Gynecology
Delayed puberty endocrine system medicine.medical_specialty business.industry Gonadal dysgenesis Gonadoblastoma Karyotype medicine.disease 030218 nuclear medicine & medical imaging 03 medical and health sciences 0302 clinical medicine Obstetrics and gynaecology Transgender hormone therapy 030220 oncology & carcinogenesis Genetics medicine Animal Science and Zoology Amenorrhea medicine.symptom Differential diagnosis business |
| Zdroj: | Apollo Medicine. 13:63-66 |
| ISSN: | 0976-0016 |
| DOI: | 10.1016/j.apme.2013.10.005 |
| Popis: | Design Case report. Setting Department of Obstetrics and Gynecology, Alexandria University, Egypt. Introduction Swyer's syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype in female phenotypic patients. It shows an abnormality in testicular differentiation. Objective To present cases of Swyer syndrome. Material and methods We present the clinical, sonographic, endocrine findings, genetic analyses and treatment in two cases of phenotypic females with XY karyotype and gonadal dysgenesis. Results All patients presented with primary amenorrhea. All patients had female-type external genitalia. Secondary sexual characters were developed in all cases. FSH levels were high. Chromosome analyses revealed a 46, XY male karyotype with no detectable mosaicism. The surgical findings were steak gonads, one of them with bilateral gonadoblastoma. Intervention(s) Bilateral gonadectomy followed by hormone replacement therapy. Conclusion We aimed to underline the necessity of considering 46, XY complete pure gonadal dysgenesis in the differential diagnosis in every adolescent female patient with delayed puberty and the importance of early gonadectomy in order to avoid the risk for gonadal tumor development. |
| Databáze: | OpenAIRE |
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