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1.
Reprod Biol Endocrinol ; 21(1): 2, 2023 Jan 11.
Artículo en Inglés | MEDLINE | ID: mdl-36631813

RESUMEN

BACKGROUND: Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic. METHODS: To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES) were performed. RESULTS: Cytogenetic abnormalities, including a high frequency of sex chromosomal anomalies (85.4%), explained the phenotype in 30.9% (51/165) of the cohort. Sanger sequencing of candidate genes identified a novel pathogenic variant in the SRY gene in a patient with 46,XY gonadal dysgenesis. An exome screen of a sub-group of 44 patients with 46,XY DSD revealed pathogenic or likely pathogenic variants in 38.6% (17/44) of patients. CONCLUSION: Rare or novel pathogenic variants were identified in the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data indicate a genetic diagnosis rate of 41.2% (68/165) in the group of 46,XY DSD.


Asunto(s)
Aciltransferasas , Disgenesia Gonadal 46 XY , Factores de Transcripción SOXE , Desarrollo Sexual , Testículo , Ubiquitina-Proteína Ligasas , Femenino , Humanos , Masculino , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Aciltransferasas/genética , Disgenesia Gonadal 46 XY/genética , Proteínas de la Membrana/genética , Mutación , Fenotipo , Diferenciación Sexual , Desarrollo Sexual/genética , Factores de Transcripción SOXE/genética , Testículo/crecimiento & desarrollo , Ubiquitina-Proteína Ligasas/genética
2.
J Clin Res Pediatr Endocrinol ; 15(1): 25-34, 2023 02 27.
Artículo en Inglés | MEDLINE | ID: mdl-35984215

RESUMEN

Objective: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD) is the most severe form. In this study, we report on the clinical and molecular cytogenetic findings of a study on a Tunisian girl with the syndromic form of 46,XY DSD. Methods: This case was a phenotypic female patient having several congenital anomalies including growth retardation. Karyotype, fluorescence in situ hybridization and array Comparative Genome Hybridization (array CGH) were performed. Results: The proband exhibited a de-novo 46,X,der(Y) karyotype. Array CGH revealed a pathogenic 27.5Mb gain of an Xp21.2 chromosome segment leading to Xp functional disomy. No deletion was observed in the Y-chromosome. The duplicated region encompassed the NR0B1 (DAX1) and MAGEB genes, located within the dosage sensitive sex (DSS) reversal locus, known as promote genes responsible for human sex reversal and testis repression. The extra-dosage and interactions of these genes with different specific genes could result in the impairment of the male sex pathway. Over-dosage of KAL1 and IL1RAPL1 genes fall within the somatic features observed in the patient. Conclusion: To the best of our knowledge, we report on the fourth case of Xp21.2-pter duplication within Xp;Yp translocation associated with XY GD. Our findings suggest that when duplicated, the NR0B1 and MAGEB genes could be a major cause of XY GD. Therefore, we emphasize the usefulness of a combined cytogenetic approach in order to provide an accurate genetic diagnosis for those patients having syndromic XY DSD in a clinical setting.


Asunto(s)
Disgenesia Gonadal 46 XY , Disgenesia Gonadal , Humanos , Masculino , Femenino , Hibridación Fluorescente in Situ , Disgenesia Gonadal 46 XY/diagnóstico , Disgenesia Gonadal 46 XY/genética
3.
J Pediatr Genet ; 4(4): 187-93, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-27617130

RESUMEN

We describe two patients carrying deletions of chromosome 8p23.1 with a commonly critical region identified by means of oligonucleotide array comparative genomic hybridization (array CGH). They didn't present congenital heart defects or behavioral problems. Only one patient presented with intellectual disability and carrying deletion of TNKS gene. We presumed the inclusion of TNKS gene in the mental impairment.

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