hrp0095p2-257 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Novel Discovered Role for CFTR in Azoospermia and Wolffian Duct Maldevelopment Caused by Cryptorchidism

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadler Michael

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...

hrp0092rfc10.2 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Cryptorchid Boys with Abrogated Mini-Puberty Display Differentially Expressed Genes Involved in Sudden Infant Death Syndrome

Hadziselimovic Faruk , Verkauskas Gilvydas , Vicel Beate , Stadler Michael

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...

hrp0089rfc8.1 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Male Fertility Genes Located in Y-Chromosomal Regions Display Differential mRNA Profiles in Response to GnRH Treatment of Cryptorchidism-Dependent Infertility

Hadziselimovic Faruk , Gegenschatz-Schmid Katharina , Verkauskas Gilvidas , Stadler Michael

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, ...

hrp0095p2-255 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Expression of Adam and Adamts Proteases Following Currative GnRHa Treatment for Cryptorchidism

Hadziselimovic Faruk , Verkauskas Gilvidas , Vincel Beata , Stadler Michael

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...

hrp0086p1-p751 | Pituitary and Neuroendocrinology P1 | ESPE2016

Transcriptional Basis of Idiopathic Central Hypogonadism in Isolated Congenital Cryptorchidism with Defective Mini-Puberty

Hadziselimovic Faruk , Gegenschatz Katharina , Verkauskas Gilvydas , Demougin Philippe , Stadler Michael , Bilius Vytautas , Malcius Dalius , Dasevicius Darius

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...