ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study examined the complex process of sex determination in mice, with a specific focus on the role of WT1 isoforms, +KTS and -KTS, during gonadal development. The study provides insights into how the balance between these isoforms impacts sexual differentiation, with broader implications for understanding gonadal dysgenesis conditions, like Frasier syndrome.While the role of the SRY gene in testicular determination i...

Brief Summary: This translational study reveals a novel mechanism underlying syndromic gonadal dysgenesis (GD). It introduces a condition termed INDYGON syndrome (Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY GONadal dysgenesis).46,XY gonadal dysgenesis (GD) is a rare disorder of sex development (DSD) affecting 1-9 per 100,000 live births. Gen...

Brief Summary: This molecular study explored the role of microRNAs (miRNAs) in mammalian sex determination. It used bulk and single-cell RNA-seq (scRNA-seq) alongside time-course expression analyses in a knockout mouse model to assess the role of the miR-17~92 cluster in this process.miRNAs are small, single-stranded, non-coding RNA molecules, 21 to 23 nucleotides in length, that mediate post-transcriptional gene regulation. Hurtado A et al. d...

Brief Summary: This translational study identifies a new susceptibility region within the estrogen receptor α ( ESR1 ) gene, linked to cryptorchidism (CO) and hypospadias (HS), the most common birth defects of the male genital tract. CO occurs in approximately 1:100 male births and is 3-times more common in premature infants, while HS affects about 1:300 male births. The prevalence of both conditions has increased over the years, with premature infants showing hi...