46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies
| Autor: | Crésio Alves, Zilda Braid, Fernanda Borchers Coeli, Maricilda Palandi de Mello |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Male
endocrine system medicine.medical_specialty Heterozygote Testicular Disorder Endocrinology Diabetes and Metabolism 46 XX Testicular Disorders of Sex Development XX male syndrome Biology Chorionic Gonadotropin Internal medicine medicine Humans Testosterone Genes sry Sexual differentiation Infant Karyotype General Medicine medicine.disease Testis determining factor Endocrinology medicine.anatomical_structure DMRT1 Gene Mutation Chromosomes Human Pair 9 Penis Transcription Factors |
| Zdroj: | Arquivos brasileiros de endocrinologia e metabologia. 54(8) |
| ISSN: | 1677-9487 |
| Popis: | The XX male syndrome - Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene. |
| Databáze: | OpenAIRE |
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