46,XX male disorder of sexual development
| Autor: | Sofia Ferreira, Manuel Fontoura, Rita Santos Silva, Maria Luisa García, Sofia Dória, Mariana Adrião, Cíntia Castro-Correia, Carla Costa |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
gynecomastia Endocrinology Diabetes and Metabolism Genetic counseling 030209 endocrinology & metabolism Case Report XX male disorder of sexual development Y chromosome hypergonadotropic hypogonadism 03 medical and health sciences 0302 clinical medicine Endocrinology Hypergonadotropic hypogonadism medicine Neoplastic transformation 030212 general & internal medicine X chromosome Gynecology business.industry Karyotype medicine.disease Testis determining factor Gynecomastia Pediatrics Perinatology and Child Health business |
| Zdroj: | Clinical Pediatric Endocrinology |
| ISSN: | 1347-7358 0918-5739 |
| Popis: | An individual’s sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo’s karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the SRY gene locus found on one of his X chromosomes. A multidisciplinary approach, including psychological support and genetic counseling, is ideal for the management of these patients. Neoplastic transformation of the dysgenetic gonads has been described in several cases, and hence self-examinations and regular ultrasounds are commonly advised. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|