Rare variant of ovotesticular disorder of sex development diagnosed due to injury-induced rupture of the reproductive gland in a patient with SRY-negative 46,ХХ karyotype (clinical case)
| Autor: | A. B. Okulov, E. A. Volodko, O. Yu. Latyshev, D. N. Godlevsky, E. V. Timokhovich, K. K. Mirakov, K. S. Nikitin, A. V. Anikiev |
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| Rok vydání: | 2021 |
| Předmět: |
Gynecology
endocrine system medicine.medical_specialty Gonad RD1-811 Ovotestis Male Phenotype business.industry duplication in the regulatory zone of the sox9 gene Urology Karyotype medicine.disease ovotestis Diseases of the genitourinary system. Urology Ambiguous genitalia medicine.anatomical_structure Testis determining factor Reproductive Medicine Scrotum gonadal rupture medicine Surgery RC870-923 Disorders of sex development business |
| Zdroj: | Andrologiâ i Genitalʹnaâ Hirurgiâ, Vol 21, Iss 4, Pp 98-102 (2021) |
| ISSN: | 2412-8902 2070-9781 |
| DOI: | 10.17650/2070-9781-2020-21-4-98-102 |
| Popis: | The clinical case of a rare variant of disorder of sex development (DSD) is described. This disorder was diagnosed with an emergency operation for the traumatic rupture of the gonad. A patient (14 years old) with a male phenotype and lack of muller duct derivatives had a female SRY negative karyotype (46,XX) and an ovotesticular gonad structure as a result of duplication in the regulatory zone of the SOX9 gene. Ovotesticular disorders of sex development with karyotype 46,XX, as a rule, are accompanied by an ambiguous genitalia and derivatives of the muller structures. Early diagnosis of the described variant of DSD was difficult due to the development of male type genitalia. Timely identification of DSD including the presented option of DSD, is possible during routine examinations of the urologist with mandatory ultrasound examination of the scrotum and pelvis. |
| Databáze: | OpenAIRE |
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