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...

hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

hrp0089fc11.5 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

A Recurrent 6-bp Intronic Deletion in NESP55 with Reduced Penetrance in Pseudohypoparathyroidism Type 1b

Li Dong , Hakonarson Hakon , Levine Michael

Background: Pseudohypoparathyroidism type 1b (PHP1b) is caused by epigenetic errors on the maternal GNAS allele at differentially methylated regions (DMRs) associated with exons A/B, XL, and NESP that lead to reduced production of Gαs transcripts most notably in the renal proximal tubule and thyroid follicular cells. Most PHP1b cases appear sporadically, few of which can be explained by paternal uniparental disomy involving chromosome 20q, leading to global methy...

hrp0089p3-p387 | Thyroid P3 | ESPE2018

Graves’ Disease, Methimazole and SLE-like Reaction:A Case Report

Yafi Michael , Pillai Chanthu , Cox Charles

Background: Graves’ disease therapy in young children may be challenging due to lack of therapy options. The safety of Radioiodine Ablation (RIA) has not been proven in children under age of 10 years. Propylthioracil (PTU) therapy has been linked to hepatic failure and became contraindicated in pediatrics.The case: A 6-year-old female was diagnosed with Graves ‘disease and treated with Methimazole (MTZ) and Propranolol. A few days after startin...

hrp0097fc7.6 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

GnRHa response patterns of testis expressed genes in cryptorchid boys

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

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...

hrp0097rfc7.3 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Histone code, cryptorchidism,infertility

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

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...

hrp0098rfc9.6 | Sex Endocrinology and Gonads | ESPE2024

GnRHa treatment of cryptorchidism alters testicular sumo gene expression

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadler Michael

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...

hrp0098rfc15.1 | Late Breaking | ESPE2024

Altered expression of epigenetic regulators is associated with high infertility risk in patients diagnosed with cryptorchidism.

Hadziselimovic Faruk , Verkauskas Gilvydas , Stadtler Michael

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...

hrp0092p1-147 | Thyroid | ESPE2019

Intrathyroidal Ectopia of Thymus in Children: Frequency, Ultrasound, Evolution

Okminyan Goar , Rogova Olga , Pykov Mihail , Lavrova Tatyana , Kiselyova Elena , Latyshev Oleg , Samsonova Lyubov

Objectives: to study the frequency, ultrasound characteristics and the evolution of intrathyroidal ectopia of thymus(IET) in children.Materials and Methods: as part of an epidemiological study (2014-2017), an assessment consists of incidence of IET in pre-puberty children, which using ultrasound of 1164 patients (604 girls, 560 boys). As part of a clinical study (2014-2019), the ultrasound characteristics and the evoluti...

hrp0082p3-d2-849 | Growth (3) | ESPE2014

GH Therapy in Prepubertal Children: Results After 4 Years

Galesanu Corina , Loghin Andra Iulia , Grozavu Ilinka , Apostu Luminita , Ungureanu Didona , Galesanu Mihail Romeo

Background: GH therapy is being used worldwide to improve height outcome in children with GH deficiency (GHD), with minimal serious side effects. Early diagnosis and therapy initiation optimize growth outcomes.Objectives: To evaluate growth and safety during the first 4 years of GH treatment in 33 GHD children.Methods: We reviewed clinical data of 33 prepubertal children (23 boys and ten girls): 30 with isolated GH deficiency (IGHD...