Rare Forms of Disorders of Sex Development (DSD) in Patients with Female Phenotype
| Autor: | Donald E. Greydanus, Kristesashvili J, Jorbenadze T, Chipashvili M |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Pediatrics
medicine.medical_specialty 030219 obstetrics & reproductive medicine business.industry Female Phenotype Karyotype Omics Malignancy medicine.disease Menstruation 03 medical and health sciences 0302 clinical medicine 030225 pediatrics Turner syndrome medicine Androgen insensitivity syndrome Disorders of sex development business |
| Zdroj: | Journal of Community Medicine & Health Education. 6 |
| ISSN: | 2161-0711 |
| DOI: | 10.4172/2161-0711.1000446 |
| Popis: | Disorders of Sex development (DSD) belong to uncommon pathologies; in addition, there are especially rare forms, such are ovotesticular disorders (OT), Turner Syndrome and early malignisation of intraabdominal located gonads in the cases of androgen insensitivity syndrome. In this article we present 5 rare cases of DSD in female phenotype patients: 3 cases of ovotesticular DSD with 46,XX and 46,XY karyotypes; 1 familial case of AIS with early malignancy (19-year-old) of intraabdominally-located testicle in older sibs; and a case of spontaneous menstruation in a patient with Turner syndrome and mosaic karyotype 45,X/47,XXX. Rare cases of DSD are connected with diagnostic and management difficulties and so description of each such case and collection of data in this field is very important from a scientific as well as a practical point of view. Determination of prognosis and adequate management of each individual patient are also essential. Study of this issue is especially sensitive in the case of adolescent patients, in order to avoid physiological stress, to reduce health risks, and to improve the quality of their life. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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