Evidence for high breakpoint variability in 46, XX, SRY‐positive testicular disorder and frequent ARSE deletion that may be associated with short stature

• DOI: 10.1111/andr.13279
• Publication Date: 2022-08-26T19:13:44Z
• Authors: Céline Capron; Louis Januel; Gaëlle Vieville; Sylvie Jaillard; Paul Kuentz; Gaëlle Salaun; Gwenaël Nadeau; Patrice Clement; Marie Pierre Brec...; Bérénice Herve; Jean Michel Dupont; Nicolas Gruchy; Pascal Chambon; Fatma Abdelhedi; Eric Dahlen; Philippe Vago; Radu Harbuz; Ingrid Plotton; Charles Coutton; Marc‐Antoine Bela...; Caroline Schluth‐...; François Vialard
• Keywords: Pseudoautosomal region; Testis determining factor; Breakpoint

The translocation of SRY onto one the two X chromosomes results in a 46,XX testicular disorder sex development; this is supposedly because non-allelic homologous recombination between protein kinase gene (PRKX) and inverted Y pseudogene (PRKY). Although SRY-positive men are infertile, literature data indicate that some these individuals short stature (relative to general population). We sought determine whether was linked additional, more complex chromosomal rearrangements.Twelve laboratories gathered detailed clinical, anthropomorphic, cytogenetic genetic (including chromosome microarray data) on patients with male syndrome.SRY present (suggesting der(X)t(X;Y)) 34 38 cases (89.5%). When considering only 20 data, we identified several rearrangements breakpoints, especially chromosome. In five for whom breakpoint located pseudoautosomal region, there partial duplication derivate contrast, 15 downstream part had been deleted (included arylsulfatase E [ARSE] 11 patients). For versus without ARSE deletion, mean height was, respectively, 167.7 ± 4.5 173.1 4.0 cm; difference not statistically significant (p = 0.1005).Although syndromes were mainly imbalanced crossover during meiosis, breakpoints differed markedly from patient another (especially chromosome); suggests presence replication-based mechanism non-homologous sequences. patients, associated which might have led stature. With view explaining development, whole exome sequencing could be suggested SRY-negative patients.