Ten cases with 46,XX testicular disorder of sex development: single center experience

Abstract

Objective To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic.Cases and Methods Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized.Results Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present.Conclusion Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility work-up. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies.

Multiscale analysis of SRY‐positive 46,XX testicular disorder of sex development: Presentation of nine cases

“…Approximately 80%–90% of 46,XX TDSD patients have SRY gene which is usually translocated on the distal portion of the short arm of an X chromosome (Chen et al., 2019; Dauwerse, Hansson, Brouwers, Peters, & Breuning, 2006; Gunes & Esteves, 2020; Queralt et al., 2008; Ropke & Tuttelmann, 2017; Zenteno‐Ruiz et al., 2001). Typical features of SRY‐positive 46,XX TDSD patients are female karyotype with completely normal male phenotype and virilised male external genitalia, small testes, azoospermia and hypergonadotropic hypogonadism (Akinsal, Baydilli, Demirtas, Saatci, & Ekmekcioglu, 2017; Ropke & Tuttelmann, 2017). Patients usually come to attention after puberty because of hypogonadism and infertility (Zenteno‐Ruiz et al., 2001).…”

SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature

“…The histogenesis of testis is initiated by the SRY gene, beginning at about 6 wk post-implantation[ 21 , 22 ]. On the other hand, a deletion mutant of the SRY gene can affect masculinization and may cause 46,XY female sex reversal[ 23 ]. Even though the SRY gene is critical in the initiation of testis determination, some of the SRY -negative phenotype may show the typical male phenotype, as seen in the present patient.…”

Varones 46, XX: a propósito de dos casos genéticamente distintos

“…Llama la atención la historia de orquidopexia referida a los 5 años de edad, situación ya antes reportada en otros casos en los que la presencia de criptorquidia bilateral congénita sin descenso antes de los dos años de edad, habría llevado a cirugías correctoras. 14 Esos reportes ilustran que la realización de estudios citogenéticos previos a decisiones quirúrgicas, si bien no es imprescindible en todas las criptorquidias, debería considerarse de primera línea en pacientes nacidos a término con criptorquidia bilateral persistente y más aún si se asocia a baja talla. La hipótesis de un posible mosaicismo bajo de línea Y que sea capaz de explicar el desarrollo testicular observado en el segundo caso es la menos probable, pues si bien a nivel citogenético podría no ser detectado, los resultados moleculares son contundentes ya que ninguno de los 20 sitios específicos de la región AZF del cromosoma Y amplificó mediante la PCR.…”