• PMID: 20699606
• Gene Name: SRY
• Condition: Turners syndrome, mixed gonadal dysgenesis (MGD)
• Association: The study identified only 1 polymorphism (c.561C?T) in a 45,X/46,XY MGD patient, which was detected in blood and in gonadal tissue.
• Population size: 27
• Population details: 27 (14 with TS and 13 with mixed gonadal dysgenesis (MGD))
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Turners syndrome, mixed gonadal dysgenesis (MGD)

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants

Nishi MY, Costa EM, Oliveira SB, Mendonca BB, Domenice S.

BACKGROUND: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified. AIMS: it was the aim of this study to screen for allelic variation in SRY in a large cohort of patients with disorders of sex development due to chromosomal abnormalities with 45,X/46,X,der(Y) karyotype. PATIENTS: twenty-seven patients, 14 with TS and 13 with mixed gonadal dysgenesis (MGD), harboring 45,X/46,X,der(Y) karyotypes were selected. METHODS: Genomic DNA was extracted from peripheral blood leukocytes of all patients and from gonadal tissue in 4 cases. The SRY coding region was PCR amplified and sequenced. RESULTS: We identified only 1 polymorphism (c.561C→T) in a 45,X/46,XY MGD patient, which was detected in blood and in gonadal tissue. CONCLUSION: our results indicate that mutations in SRY are rare findings in patients with Y chromosome mosaicisms. Therefore, a significant role of mutated SRY in the etiology of gonadal dysgenesis in patients harboring 45,X/46,XY karyotype and variants seems very unlikely. CI - 2010 S. Karger AG, Basel. FAU - Nishi, Mirian Yumie AU - Nishi MY AD - Unit of Developmental Endocrinology and Laboratory of Hormone and Molecular Genetics LIM/42, Hospital das Clinicas of the University of São Paulo Medical School, São Paulo, Brazil. FAU - Costa, Elaine Maria Frade AU - Costa EM FAU - Oliveira, Suely Beirão AU - Oliveira SB FAU - Mendonca, Berenice Bilharinho AU - Mendonca BB