ESPE Abstracts

Background: The hallmark of successful treatment of cryptorchid boys is fertility. However, reported incidences of normal spermiograms for unilateral cryptorchid patients range from 83% to 22%.Aim of the study: Because, cryptorchid testis has always abnormal histology, performing testicular biopsy it is possible to differentiate between cryptorchid and a normal testicular histology thus validating obtained clinical diagnosis. We hypothesize that in a poo...

Aim of the Study: Cryptorchidism occurs more frequently in CF-children, and malformed epididymis was found more in cryptorchid boys with abrogated mini-puberty. Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) is transporter protein that acts as a chloride channel. Specifically, CFTR is associated with spermatogenesis and fertility.Patients and Methods: Testicular biopsies for histological and RNA analysis from...

Introduction: Most testis expressed (TEX) genes are testis-specific and evolutionarily conserved and several studies have reported important roles of TEX11, TEX12, TEX14, TEX15 and TEX 101 in mammalian fertility. Retrotransposons are thought to be critical for the evolution of mammalian genomes. TEX19 functions in the post-translational regulation of L1 retrotransposons, which are involved in maintaining trans-generational genome stability. In boys with crypto...

Introduction: Multiple studies have demonstrated that histone lysine methyltransferases regulate gene transcription, thereby influencing cell proliferation, cell differentiation, cell migration, and tissue invasion.Aim of the study: Here we describe the key functions of histone lysine methyltransferases and chromatin remodeling genes and summarize their role in infertility.Patients and Meth...

Introduction: Reversible post-translational modifications (PTMs) dynamically regulate the activities of numerous proteins. The Small Ubiquitin-related Modifier (SUMO) proteins are conjugated to lysines in their target proteins in a process termed SUMOylation. This PTM regulates, among others, transcription, gene silencing, chromatin structure and DNA repair. Here, we investigated the expression of five SUMO genes in testicular samples from patients with crypto...

Introduction: Resetting the epigenome in human primordial germ cells is critical for their development. It has been shown that a regulatory network established by SOX17 and PRDM1/BLIMP1 represses DNA methylation pathways and activates TET-mediated hydroxymethylation. (1) Testicular samples from high infertility risk (HIR) cryptorchid boys with defective mini-puberty and impaired differentiation of Ad spermatogonia display altered expression of genes encoding h...

Aim of the Study: ADAM/ADAMTS family members encode extracellular, multidomain proteolytic enzymes. Mutant Adamts16 mice display cryptorchidism and sterility. We hypothesize that gonadotropin-regulated ADAM/ADAMTS genes are involved in testicular development during mini-puberty.Patients and Methods: Testicular biopsies for histological and RNA-Sequencing analysis from bilateral cryptorchid boys were analyzed. RNA samples...

Background: The long QT syndrome is the most frequent a well-established causative factor, among cardiac channelopathies, for the sudden infant death syndrome (SIDS). It accounts for approximately 12% of the cases. The non-transcriptional regulation of slowly activating delayed rectifier K+ currents and suppression of L-type Ca2+ currents by testosterone is a regulatory mechanism of cardiac repolarization that potentially contributes to the control...

Background: Undescended testes in patients with defective mini-puberty contain germ cells that fail to differentiate normally into Ad spermatogonia and ultimately leads to infertility. Six months treatment with the gonadotropin-releasing hormone GnRH increases luteinizing hormone and testosterone secretion and rescues fertility in the majority of pathological cryptorchid testes. Several Y chromosomal genes in the male-specific Y region (MSY) are essential for spermatogenesis, ...

Objective and hypotheses: The objective was to use whole-genome RNA profiling of testicular biopsies by DNA strand-specific RNA-sequencing to explore the causative role of isolated congenital cryptorchidism in azoospermia and/or infertility.Method: Fifteen cryptorchid patients, aged 7 months to 5 years, were enrolled in this study and underwent orchidopexy. During surgery, testicular tissue biopsies were collected and split in half for histological exami...